A6V (p.Ala6Val) variant of U2AF1 (Q01081)
A6V (p.Ala6Val) in U2AF1 (Q01081) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- gnomAD 21-43107478-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.41
- MetaLR 0.27
- MetaSVM -0.43
- CADD 24.20
- PolyPhen-2 0.37
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available