A56V (p.Ala56Val) variant of ETV5 (ETS translocation variant 5)
A56V (p.Ala56Val) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
A56V (p.Ala56Val) variant details
- p.Ala56Val
- gnomAD rs1358318361
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.15
- CADD 23.80
- PolyPhen-2 0.18
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)