R17S (p.Arg17Ser) variant of CYP21A2 (Steroid 21-hydroxylase)
R17S (p.Arg17Ser) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R17S (p.Arg17Ser) variant details
- p.Arg17Ser
- gnomAD 6-32038471-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- CADD 9.69
- PolyPhen-2 0.01
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available