W17* (p.Trp17Ter) variant of HADHB (P55084)
W17* (p.Trp17Ter) in HADHB (P55084) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
W17* (p.Trp17Ter) variant details
- p.Trp17Ter
- Ensembl rs920297938
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.756
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available