P10T (p.Pro10Thr) variant of ALDH2 (P05091)
P10T (p.Pro10Thr) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P10T (p.Pro10Thr) variant details
- p.Pro10Thr
- gnomAD 12-111767010-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.15
- CADD 12.00
- PolyPhen-2 0.01
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available