G5C (p.Gly5Cys) variant of CYP21A2 (Steroid 21-hydroxylase)
G5C (p.Gly5Cys) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G5C (p.Gly5Cys) variant details
- p.Gly5Cys
- Ensembl rs1774895195
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available