W17* (p.Trp17Ter) variant of CYP17A1 (P05093)
W17* (p.Trp17Ter) in CYP17A1 (P05093) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
W17* (p.Trp17Ter) variant details
- p.Trp17Ter
- rs104894141
- ClinGen CA115186
- ClinVar RCV000001862
- ClinVar RCV003555892
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.845
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: A new compound heterozygous mutation (W17X, 436 + 5G --> T) in the cytochrome P450c17 gene causes 17… (PMID 9435441)