P28A (p.Pro28Ala) variant of ALDH2 (P05091)
P28A (p.Pro28Ala) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P28A (p.Pro28Ala) variant details
- p.Pro28Ala
- gnomAD 12-111767064-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.32
- CADD 22.10
- PolyPhen-2 0.03
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available