R11L (p.Arg11Leu) variant of ALDH2 (P05091)
R11L (p.Arg11Leu) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R11L (p.Arg11Leu) variant details
- p.Arg11Leu
- TOPMed rs2068163053
- gnomAD rs2068163053
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.10
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available