A19V (p.Ala19Val) variant of ALDH2 (P05091)
A19V (p.Ala19Val) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- gnomAD 12-111767038-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.10
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available