E79K (p.Glu79Lys) variant of ADH1B (P00325)
E79K (p.Glu79Lys) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E79K (p.Glu79Lys) variant details
- p.Glu79Lys
- cosmic curated COSV59298
- ExAC rs766646312
- TOPMed rs766646312
- gnomAD rs766646312
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.07
- CADD 20.20
- PolyPhen-2 0.09
- SIFT 0.05
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available