A27D (p.Ala27Asp) variant of ALDH2 (P05091)
A27D (p.Ala27Asp) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A27D (p.Ala27Asp) variant details
- p.Ala27Asp
- gnomAD 12-111767062-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.21
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available