G36R (p.Gly36Arg) variant of CYP21A2 (Steroid 21-hydroxylase)
G36R (p.Gly36Arg) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
G36R (p.Gly36Arg) variant details
- p.Gly36Arg
- gnomAD 6-32038528-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available