P28T (p.Pro28Thr) variant of ALDH2 (P05091)
P28T (p.Pro28Thr) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P28T (p.Pro28Thr) variant details
- p.Pro28Thr
- gnomAD 12-111767064-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.36
- CADD 23.70
- PolyPhen-2 0.46
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available