H79Q (p.His79Gln) variant of CYP17A1 (P05093)
H79Q (p.His79Gln) in CYP17A1 (P05093) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
H79Q (p.His79Gln) variant details
- p.His79Gln
- TOPMed rs974635568
- gnomAD rs974635568
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.33
- CADD 22.80
- PolyPhen-2 0.93
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available