H48D (p.His48Asp) variant of ADH1B (P00325)
H48D (p.His48Asp) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
H48D (p.His48Asp) variant details
- p.His48Asp
- ExAC rs761042153
- TOPMed rs761042153
- gnomAD rs761042153
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.09
- CADD 21.50
- PolyPhen-2 0.02
- SIFT 0.04
- Most common in the East Asian population (allele frequency 0.00018)
- Structural context available