R17G (p.Arg17Gly) variant of CYP21A2 (Steroid 21-hydroxylase)
R17G (p.Arg17Gly) 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.
R17G (p.Arg17Gly) variant details
- p.Arg17Gly
- gnomAD 6-32038471-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available
- Literature evidence available