P10L (p.Pro10Leu) variant of ALDH2 (P05091)
P10L (p.Pro10Leu) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P10L (p.Pro10Leu) variant details
- p.Pro10Leu
- gnomAD 12-111767011-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.21
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available