A80S (p.Ala80Ser) variant of ETV1 (ETS translocation variant 1)
A80S (p.Ala80Ser) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A80S (p.Ala80Ser) variant details
- p.Ala80Ser
- gnomAD rs1246463552
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.10
- CADD 22.70
- PolyPhen-2 0.40
- SIFT 0.06
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available