R15L (p.Arg15Leu) variant of ALDH2 (P05091)
R15L (p.Arg15Leu) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R15L (p.Arg15Leu) variant details
- p.Arg15Leu
- gnomAD 12-111767026-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.24
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available