S106P (p.Ser106Pro) variant of CYP17A1 (P05093)
S106P (p.Ser106Pro) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Deficiency of steroid 17-alpha-monooxygenase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
S106P (p.Ser106Pro) variant details
- p.Ser106Pro
- rs104894135
- ClinGen CA115179
- ClinVar RCV000001852
- ClinVar RCV000288112
- Pathogenic
- not provided; Deficiency of steroid 17-alpha-monooxygenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.73
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Deficiency of steroid 17-alpha-monooxygenase)
- EBI: Pathogenic (in AH5)
- UniProt: Pathogenic (in AH5)
- Population evidence available
- Structural context available
- Cited in: Male pseudohermaphroditism resulting from 17 alpha-monooxygenase (P-450C17) deficiency in two unrelated Guamanians. (PMID 1621662)
- Cited in: Missense mutation serine106----proline causes 17 alpha-hydroxylase deficiency. (PMID 1714904)