C47R (p.Cys47Arg) variant of ADH1B (P00325)
C47R (p.Cys47Arg) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
C47R (p.Cys47Arg) variant details
- p.Cys47Arg
- TOPMed rs1306875278
- gnomAD rs1306875278
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.68
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available