A2V (p.Ala2Val) variant of ARID1A (O14497)
A2V (p.Ala2Val) 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 and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- Ensembl rs2124739681
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.06
- MetaLR 0.01
- MetaSVM -0.92
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available