P32L (p.Pro32Leu) variant of ALDH2 (P05091)
P32L (p.Pro32Leu) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P32L (p.Pro32Leu) variant details
- p.Pro32Leu
- gnomAD 12-111767077-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.17
- CADD 22.60
- PolyPhen-2 0.17
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available