P28H (p.Pro28His) variant of ALDH2 (P05091)
P28H (p.Pro28His) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
P28H (p.Pro28His) variant details
- p.Pro28His
- gnomAD 12-111767065-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.43
- CADD 24.60
- PolyPhen-2 0.88
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available