R38S (p.Arg38Ser) variant of ADH1B (P00325)
R38S (p.Arg38Ser) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R38S (p.Arg38Ser) variant details
- p.Arg38Ser
- ExAC rs770117532
- TOPMed rs770117532
- gnomAD rs770117532
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.44
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available