F453S (p.Phe453Ser) variant of CYP17A1 (P05093)
F453S (p.Phe453Ser) 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 partial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
F453S (p.Phe453Ser) variant details
- p.Phe453Ser
- rs104894151
- ClinGen CA115205
- ClinVar RCV000001879
- TOPMed rs104894151
- Pathogenic
- 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- AlphaMissense 0.95
- MetaLR 0.51
- MetaSVM 0.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.96
- ClinVar: Pathogenic (17-alpha-hydroxylase/17,20-lyase deficiency, combined partial)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Phenotype-genotype correlation in eight Chinese 17alpha-hydroxylase/17,20 lyase-deficiency patients with five novel… (PMID 16772352)