A8V (p.Ala8Val) variant of ARID2 (Q68CP9)
A8V (p.Ala8Val) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- Ensembl rs2137958721
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.02
- MetaLR 0.03
- MetaSVM -1.06
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.01
- Population evidence available
- Structural context available