S166C (p.Ser166Cys) variant of CYP21A2 (Steroid 21-hydroxylase)
S166C (p.Ser166Cys) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
S166C (p.Ser166Cys) variant details
- p.Ser166Cys
- 1000Genomes rs546382810
- ExAC rs546382810
- gnomAD rs546382810
- Likely pathogenic
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- CADD 23.80
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 3.5e-05)