F114V (p.Phe114Val) variant of CYP17A1 (P05093)
F114V (p.Phe114Val) 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 0.58 / 1. The record also includes published literature and structural context.
F114V (p.Phe114Val) variant details
- p.Phe114Val
- rs104894147
- ClinGen CA115189
- ClinVar RCV000001865
- UniProt VAR 022747
- Pathogenic
- 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- AlphaMissense 0.94
- MetaLR 0.51
- MetaSVM 0.04
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.91
- ClinVar: Pathogenic (17-alpha-hydroxylase/17,20-lyase deficiency, combined complete)
- EBI: Pathogenic (in AH5)
- UniProt: Pathogenic (in AH5)
- Structural context available
- Cited in: Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations… (PMID 12466376)
- Cited in: 17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation. (PMID 10720067)