R14C (p.Arg14Cys) variant of ALDH2 (P05091)
R14C (p.Arg14Cys) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R14C (p.Arg14Cys) variant details
- p.Arg14Cys
- gnomAD 12-111767022-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.28
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available