L2M (p.Leu2Met) variant of ALDH2 (P05091)
L2M (p.Leu2Met) 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.
L2M (p.Leu2Met) variant details
- p.Leu2Met
- gnomAD 12-111766986-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.28
- CADD 14.00
- PolyPhen-2 0.84
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available