R3H (p.Arg3His) variant of ALDH2 (P05091)
R3H (p.Arg3His) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R3H (p.Arg3His) variant details
- p.Arg3His
- gnomAD 12-111766990-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.26
- CADD 22.50
- PolyPhen-2 0.88
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available