A8V (p.Ala8Val) variant of ARID1A (O14497)
A8V (p.Ala8Val) 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, published literature, and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- gnomAD 1-26696426-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.11
- MetaLR 0.00
- MetaSVM -0.53
- CADD 17.80
- PolyPhen-2 0.04
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available