D116N (p.Asp116Asn) variant of ADH1B (P00325)
D116N (p.Asp116Asn) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
D116N (p.Asp116Asn) variant details
- p.Asp116Asn
- 1000Genomes rs200395036
- ExAC rs200395036
- TOPMed rs200395036
- gnomAD rs200395036
- Missense
- Variant Prioritization Score for Impact Estimate 0.0913
- REVEL 0.05
- CADD 11.40
- PolyPhen-2 0.01
- SIFT 0.39
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available