D103H (p.Asp103His) variant of CYP17A1 (P05093)
D103H (p.Asp103His) in CYP17A1 (P05093) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
D103H (p.Asp103His) variant details
- p.Asp103His
- ExAC rs747477069
- gnomAD rs747477069
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.24
- CADD 22.60
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available