A20D (p.Ala20Asp) variant of ALDH2 (P05091)
A20D (p.Ala20Asp) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A20D (p.Ala20Asp) variant details
- p.Ala20Asp
- gnomAD 12-111767041-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.26
- CADD 17.40
- PolyPhen-2 0.12
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available