H373L (p.His373Leu) variant of CYP17A1 (P05093)
H373L (p.His373Leu) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
H373L (p.His373Leu) variant details
- p.His373Leu
- rs760695410
- ClinGen CA5669401
- ClinVar RCV000809884
- ClinVar RCV001830766
- Pathogenic
- not provided; Deficiency of steroid 17-alpha-monooxygenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.91
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Deficiency of steroid 17-alpha-monooxygenase)
- EBI: Pathogenic (in AH5)
- UniProt: Pathogenic (in AH5)
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available
- Cited in: A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case… (PMID 24140098)
- Cited in: Mutation of histidine 373 to leucine in cytochrome P450c17 causes 17 alpha-hydroxylase deficiency. (PMID 8245018)