A6V (p.Ala6Val) variant of ARID1A (O14497)
A6V (p.Ala6Val) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- gnomAD 1-26696420-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.04
- MetaLR 0.01
- MetaSVM -0.80
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.05
- Most common in the East Asian population (allele frequency 3.9e-05)
- Structural context available
- Literature evidence available