E36* (p.Glu36Ter) variant of ADH1B (P00325)
E36* (p.Glu36Ter) in ADH1B (P00325) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
E36* (p.Glu36Ter) variant details
- p.Glu36Ter
- ExAC rs763134176
- gnomAD rs763134176
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.828
- CADD 36.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available