R15H (p.Arg15His) variant of ALDH2 (P05091)
R15H (p.Arg15His) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R15H (p.Arg15His) variant details
- p.Arg15His
- gnomAD 12-111767026-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.28
- CADD 21.70
- PolyPhen-2 0.08
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available