C22R (p.Cys22Arg) variant of CYP17A1 (P05093)
C22R (p.Cys22Arg) in CYP17A1 (P05093) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
C22R (p.Cys22Arg) variant details
- p.Cys22Arg
- ExAC rs781329931
- gnomAD rs781329931
- Missense
- Variant Prioritization Score for Impact Estimate 0.0696
- REVEL 0.08
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available