A19T (p.Ala19Thr) variant of ALDH2 (P05091)
A19T (p.Ala19Thr) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- gnomAD 12-111767037-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.11
- CADD 14.70
- PolyPhen-2 0.02
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available