P28R (p.Pro28Arg) variant of ALDH2 (P05091)
P28R (p.Pro28Arg) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P28R (p.Pro28Arg) variant details
- p.Pro28Arg
- gnomAD rs1269099351
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.42
- CADD 24.40
- PolyPhen-2 0.77
- SIFT 0.01
- Population evidence available
- Structural context available