A6T (p.Ala6Thr) variant of ALDH2 (P05091)
A6T (p.Ala6Thr) 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.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- gnomAD 12-111766998-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.14
- CADD 6.81
- PolyPhen-2 0.04
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available