R14H (p.Arg14His) variant of ALDH2 (P05091)
R14H (p.Arg14His) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R14H (p.Arg14His) variant details
- p.Arg14His
- gnomAD 12-111767023-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.27
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available