S27S (p.Ser27Ser) variant of CYP21A2 (Steroid 21-hydroxylase)
S27S (p.Ser27Ser) in CYP21A2 (Steroid 21-hydroxylase) is a synonymous 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.
S27S (p.Ser27Ser) variant details
- p.Ser27Ser
- rs746857236
- gnomAD 6-32038503-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.223
- CADD 6.82
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available