W406G (p.Trp406Gly) variant of CYP17A1 (P05093)
W406G (p.Trp406Gly) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Deficiency of steroid 17-alpha-monooxygenase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes structural context.
W406G (p.Trp406Gly) variant details
- p.Trp406Gly
- rs104894143
- ClinGen CA377938465
- ClinVar RCV003337809
- TOPMed rs104894143
- Uncertain significance
- Deficiency of steroid 17-alpha-monooxygenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- AlphaMissense 0.96
- MetaLR 0.66
- MetaSVM 0.45
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.90
- ClinVar: Uncertain significance (Deficiency of steroid 17-alpha-monooxygenase)
- EBI: Pathogenic (in AH5)
- UniProt: Pathogenic (in AH5)
- Structural context available