R17R (p.Arg17Arg) variant of CYP21A2 (Steroid 21-hydroxylase)
R17R (p.Arg17Arg) in CYP21A2 (Steroid 21-hydroxylase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R17R (p.Arg17Arg) variant details
- p.Arg17Arg
- rs1260646339
- gnomAD 6-32038473-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.212
- CADD 5.92
- Most common in the Non-Finnish European population (allele frequency 2e-05)
- Structural context available
- Literature evidence available