D116Y (p.Asp116Tyr) variant of ADH1B (P00325)
D116Y (p.Asp116Tyr) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
D116Y (p.Asp116Tyr) variant details
- p.Asp116Tyr
- 1000Genomes rs200395036
- ExAC rs200395036
- TOPMed rs200395036
- gnomAD rs200395036
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.06
- CADD 19.00
- PolyPhen-2 0.84
- SIFT 0.07
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available