F93C (p.Phe93Cys) variant of CYP17A1 (P05093)
F93C (p.Phe93Cys) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
F93C (p.Phe93Cys) variant details
- p.Phe93Cys
- rs104894146
- ClinGen CA115188
- ClinVar RCV000001864
- UniProt VAR 013147
- Pathogenic
- 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- AlphaMissense 0.95
- MetaLR 0.76
- MetaSVM 0.73
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.98
- ClinVar: Pathogenic (17-alpha-hydroxylase/17,20-lyase deficiency, combined complete)
- EBI: Pathogenic (in AH5)
- UniProt: Pathogenic (in AH5)
- Structural context available
- Cited in: Combined 17alpha-Hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene. (PMID 11836339)
- Cited in: 17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation. (PMID 10720067)