W121* (p.Trp121Ter) variant of CYP17A1 (P05093)
W121* (p.Trp121Ter) in CYP17A1 (P05093) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in AH5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
W121* (p.Trp121Ter) variant details
- p.Trp121Ter
- rs942376359
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10088
- ClinGen CA212294483
- Pathogenic
- in AH5
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.858
- CADD 37.00
- EBI: Pathogenic (in AH5)
- UniProt: Pathogenic (in AH5)
- Population evidence available
- Structural context available