Genomic change | CDS change | Protein change | Frequency | SIFTb | PolyPhen-2c | fathmmd | MutationTaster |
---|---|---|---|---|---|---|---|
g.74423Aā>āG g.74424Aā>āG | c.1649Aā>āG c.1650Aā>āG | p.(Lys550Arg) | 12 | Deleterious (0) | Probably damaging (0.996) | Cancer promoting (āā6.07) | Disease causing (0.999)f |
g.74431Tā>āCa | c.1657 Tā>āC | p.(Tyr553His) | 1 | Deleterious (0) | Probably damaging (1) | Cancer promoting (āā6.63) | Disease causing (0.999) |
g.74437Gā>āA | c.1663Gā>āA | p.(Val555Ile) | 1 | Tolerated (0.67) | Benign (0.039) | Cancer promoting (āā5.68) | Disease causing (0.999) |
g.74443Tā>āG | c.1669Tā>āG | p.(Trp557Gly) | 1 | Deleterious (0) | Probably damaging (1) | Cancer promoting (āā6.26) | Disease causing (0.999) |
g.74455Gā>āA | c.1681Gā>āA | p.(Glu561Lys) | 1 | Deleterious (0) | Possibly damaging (0.875) | Cancer promoting (āā6.39) | Disease causing (0.999) |
g.74468Gā>āA | c.1694Gā>āA | p.(Gly565Glu) | 1 | Deleterious (0) | Probably damaging (1) | Cancer promoting (āā7.20) | Disease causing (0.999) |
g.74501Tā>āC | c.1727Tā>āC | p.(Leu576Pro) | 1 | Deleterious (0) | Possibly damaging (0.627) | Cancer promoting (āā6.92) | Disease causing (0.999) |
g.74515Aā>āGa | c.1741 Aā>āG | p.(Lys581Glu) | 1 | Deleterious (0.01) | Possibly damaging (0.811) | Cancer promoting (āā6.29) | Disease causing (0.999) |
g.74531Gā>āA | c.1757Gā>āA | p.(Arg586Lys) | 1 | Deleterious (0) | Possibly damaging (0.88) | Passengere (āā1.74) | Disease causing (0.999) |