A2V (p.Ala2Val) variant of U2AF1 (Q01081)
A2V (p.Ala2Val) in U2AF1 (Q01081) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- Ensembl rs2146474158
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.31
- MetaLR 0.35
- MetaSVM -0.24
- CADD 26.70
- PolyPhen-2 0.54
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.1e-06)
- Structural context available