R38L (p.Arg38Leu) variant of ADH1B (P00325)
R38L (p.Arg38Leu) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R38L (p.Arg38Leu) variant details
- p.Arg38Leu
- ExAC rs777100313
- TOPMed rs777100313
- gnomAD rs777100313
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.37
- CADD 24.20
- PolyPhen-2 0.93
- SIFT 0.03
- Most common in the South Asian population (allele frequency 4.7e-05)
- Structural context available