W2* (p.Trp2Ter) variant of CYP17A1 (P05093)
W2* (p.Trp2Ter) 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 0.75 / 1. The record also includes population frequency data and structural context.
W2* (p.Trp2Ter) variant details
- p.Trp2Ter
- rs1844178791
- ClinGen CA377941174
- ClinVar RCV001211509
- Ensembl rs1844178791
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.752
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available