R15C (p.Arg15Cys) variant of ALDH2 (P05091)
R15C (p.Arg15Cys) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R15C (p.Arg15Cys) variant details
- p.Arg15Cys
- gnomAD 12-111767025-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.27
- CADD 22.80
- PolyPhen-2 0.14
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available