W20C (p.Trp20Cys) variant of CYP21A2 (Steroid 21-hydroxylase)
W20C (p.Trp20Cys) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
W20C (p.Trp20Cys) variant details
- p.Trp20Cys
- gnomAD rs1265093634
- Uncertain significance
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.0006)
- Structural context available