H48R (p.His48Arg) variant of CYP17A1 (P05093)
H48R (p.His48Arg) in CYP17A1 (P05093) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
H48R (p.His48Arg) variant details
- p.His48Arg
- gnomAD rs1844175156
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.21
- CADD 17.40
- PolyPhen-2 0.41
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available