A21V (p.Ala21Val) variant of ALDH2 (P05091)
A21V (p.Ala21Val) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- gnomAD 12-111767044-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.25
- CADD 15.50
- PolyPhen-2 0.04
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available