A8D (p.Ala8Asp) variant of ARID1A (O14497)
A8D (p.Ala8Asp) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A8D (p.Ala8Asp) variant details
- p.Ala8Asp
- Ensembl rs2124739772
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.10
- MetaLR 0.01
- MetaSVM -0.82
- CADD 23.30
- PolyPhen-2 0.26
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available