C10* (p.Cys10Ter) variant of ADH1B (P00325)
C10* (p.Cys10Ter) in ADH1B (P00325) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
C10* (p.Cys10Ter) variant details
- p.Cys10Ter
- gnomAD rs1413394969
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.766
- CADD 28.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available