C47* (p.Cys47Ter) variant of ADH1B (P00325)
C47* (p.Cys47Ter) in ADH1B (P00325) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
C47* (p.Cys47Ter) variant details
- p.Cys47Ter
- cosmic curated COSV10736
- gnomAD rs1268743504
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.571
- CADD 35.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available