A9D (p.Ala9Asp) variant of ARID1A (O14497)
A9D (p.Ala9Asp) 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.
A9D (p.Ala9Asp) variant details
- p.Ala9Asp
- TOPMed rs1271598449
- gnomAD rs1271598449
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.04
- MetaLR 0.01
- MetaSVM -0.86
- CADD 22.20
- PolyPhen-2 0.05
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 0.00017)
- Structural context available