V25L (p.Val25Leu) variant of ALDH2 (P05091)
V25L (p.Val25Leu) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V25L (p.Val25Leu) variant details
- p.Val25Leu
- gnomAD 12-111767055-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.21
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available