A9V (p.Ala9Val) variant of ARID1A (O14497)
A9V (p.Ala9Val) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- TOPMed rs1271598449
- gnomAD rs1271598449
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.04
- MetaLR 0.01
- MetaSVM -0.88
- CADD 22.20
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available