P26L (p.Pro26Leu) variant of ALDH2 (P05091)
P26L (p.Pro26Leu) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- gnomAD 12-111767059-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.33
- CADD 22.80
- PolyPhen-2 0.24
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available