R38H (p.Arg38His) variant of ADH1B (P00325)
R38H (p.Arg38His) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R38H (p.Arg38His) variant details
- p.Arg38His
- ExAC rs777100313
- TOPMed rs777100313
- gnomAD rs777100313
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.45
- CADD 22.90
- PolyPhen-2 0.28
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available