A82V (p.Ala82Val) variant of ETV5 (ETS translocation variant 5)
A82V (p.Ala82Val) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
A82V (p.Ala82Val) variant details
- p.Ala82Val
- TOPMed rs1713925890
- gnomAD rs1713925890
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.23
- CADD 26.70
- PolyPhen-2 0.71
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)