H48Y (p.His48Tyr) variant of ADH1B (P00325)
H48Y (p.His48Tyr) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
H48Y (p.His48Tyr) variant details
- p.His48Tyr
- cosmic curated COSV59298
- ExAC rs761042153
- TOPMed rs761042153
- gnomAD rs761042153
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.13
- CADD 16.60
- PolyPhen-2 0.06
- SIFT 0.19
- Most common in the REMAINING population (allele frequency 0.0014)
- Structural context available