S27R (p.Ser27Arg) variant of CYP21A2 (Steroid 21-hydroxylase)
S27R (p.Ser27Arg) 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 and structural context.
S27R (p.Ser27Arg) variant details
- p.Ser27Arg
- gnomAD rs1388762157
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- CADD 9.81
- PolyPhen-2 0.05
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available