L12M (p.Leu12Met) variant of ALDH2 (P05091)
L12M (p.Leu12Met) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L12M (p.Leu12Met) variant details
- p.Leu12Met
- gnomAD 12-111767016-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.19
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available