A5V (p.Ala5Val) variant of ALDH2 (P05091)
A5V (p.Ala5Val) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- gnomAD 12-111766996-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.13
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.62
- Population evidence available
- Structural context available
- Literature evidence available