A10V (p.Ala10Val) variant of ARID1A (O14497)
A10V (p.Ala10Val) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A10V (p.Ala10Val) variant details
- p.Ala10Val
- gnomAD 1-26696432-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.06
- MetaLR 0.01
- MetaSVM -0.63
- CADD 23.30
- PolyPhen-2 0.04
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available