L12Q (p.Leu12Gln) variant of ALDH2 (P05091)
L12Q (p.Leu12Gln) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L12Q (p.Leu12Gln) variant details
- p.Leu12Gln
- gnomAD 12-111767017-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.17
- CADD 18.60
- PolyPhen-2 0.03
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available