V5A (p.Val5Ala) variant of ARID1A (O14497)
V5A (p.Val5Ala) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
V5A (p.Val5Ala) variant details
- p.Val5Ala
- cosmic curated COSV10520
- Ensembl rs2124739727
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.04
- MetaLR 0.01
- MetaSVM -0.85
- CADD 23.30
- PolyPhen-2 0.05
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available