R11C (p.Arg11Cys) variant of ALDH2 (P05091)
R11C (p.Arg11Cys) 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.
R11C (p.Arg11Cys) variant details
- p.Arg11Cys
- gnomAD 12-111767013-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.26
- CADD 19.20
- PolyPhen-2 0.21
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available