H50N (p.His50Asn) variant of CYP17A1 (P05093)
H50N (p.His50Asn) in CYP17A1 (P05093) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
H50N (p.His50Asn) variant details
- p.His50Asn
- ExAC rs770996975
- gnomAD rs770996975
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.61
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available