R14L (p.Arg14Leu) variant of ALDH2 (P05091)
R14L (p.Arg14Leu) 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 and structural context.
R14L (p.Arg14Leu) variant details
- p.Arg14Leu
- TOPMed rs2068163257
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.27
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.14
- Population evidence available
- Structural context available