L2F (p.Leu2Phe) variant of ALDH2 (P05091)
L2F (p.Leu2Phe) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L2F (p.Leu2Phe) variant details
- p.Leu2Phe
- gnomAD 12-111766988-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.34
- CADD 22.70
- PolyPhen-2 0.80
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available