H78Q (p.His78Gln) variant of CYP17A1 (P05093)
H78Q (p.His78Gln) 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 0.16 / 1. The record also includes population frequency data and structural context.
H78Q (p.His78Gln) variant details
- p.His78Gln
- TOPMed rs1464888181
- gnomAD rs1464888181
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.20
- CADD 7.76
- PolyPhen-2 0.02
- SIFT 0.35
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 0.00012)
- Structural context available