H373Y (p.His373Tyr) variant of CYP17A1 (P05093)
H373Y (p.His373Tyr) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Deficiency of steroid 17-alpha-monooxygenase; Congenital adrenal h. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
H373Y (p.His373Tyr) variant details
- p.His373Tyr
- rs1423560123
- ClinGen CA377938701
- ClinVar RCV001376807
- ClinVar RCV001826120
- Pathogenic/Likely pathogenic
- not provided; Deficiency of steroid 17-alpha-monooxygenase; Congenital adrenal h
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.90
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Deficiency of steroid 17-alpha-monooxygenase; Cong)
- EBI: Pathogenic (in AH5)
- UniProt: Pathogenic (in AH5)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available