H79D (p.His79Asp) variant of CYP17A1 (P05093)
H79D (p.His79Asp) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Deficiency of steroid 17-alpha-monooxygenase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
H79D (p.His79Asp) variant details
- p.His79Asp
- rs370973897
- ClinGen CA5669625
- ClinVar RCV001280133
- ESP rs370973897
- Uncertain significance
- Deficiency of steroid 17-alpha-monooxygenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.40
- CADD 19.10
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Uncertain significance (Deficiency of steroid 17-alpha-monooxygenase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available