A3V (p.Ala3Val) variant of ARID1A (O14497)
A3V (p.Ala3Val) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- cosmic curated COSV99081
- Ensembl rs2124739693
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.07
- MetaLR 0.01
- MetaSVM -0.81
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available