S27G (p.Ser27Gly) variant of CYP21A2 (Steroid 21-hydroxylase)
S27G (p.Ser27Gly) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
S27G (p.Ser27Gly) variant details
- p.Ser27Gly
- ExAC rs773259857
- TOPMed rs773259857
- gnomAD rs773259857
- Missense
- Variant Prioritization Score for Impact Estimate 0.0901
- CADD 4.08
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available