G13C (p.Gly13Cys) variant of ALDH2 (P05091)
G13C (p.Gly13Cys) 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.
G13C (p.Gly13Cys) variant details
- p.Gly13Cys
- gnomAD 12-111767019-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.15
- CADD 21.10
- PolyPhen-2 0.38
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available