A4D (p.Ala4Asp) variant of ALDH2 (P05091)
A4D (p.Ala4Asp) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A4D (p.Ala4Asp) variant details
- p.Ala4Asp
- gnomAD 12-111766993-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.22
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available