C170Y (p.Cys170Tyr) variant of CYP21A2 (Steroid 21-hydroxylase)
C170Y (p.Cys170Tyr) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and published literature.
C170Y (p.Cys170Tyr) variant details
- p.Cys170Tyr
- rs1582304457
- Ensembl rs1582304457
- ClinGen CA363502960
- ClinVar RCV000984599
- Pathogenic
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia)
- EBI: Pathogenic (in AH3)
- UniProt: Pathogenic (in AH3)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Cited in: Identification of CYP21 mutations, one novel, by single strand conformational polymorphism (SSCP) analysis. Mutations… (PMID 10094562)
- Cited in: 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. (PMID 20301350)