S76R (p.Ser76Arg) variant of ADH1B (P00325)
S76R (p.Ser76Arg) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S76R (p.Ser76Arg) variant details
- p.Ser76Arg
- Ensembl rs1579514958
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.12
- CADD 22.70
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available