R427C (p.Arg427Cys) variant of CYP21A2 (Steroid 21-hydroxylase)
R427C (p.Arg427Cys) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R427C (p.Arg427Cys) variant details
- p.Arg427Cys
- rs1370167869
- ClinGen CA363511962
- ClinVar RCV000711369
- ClinVar RCV005627393
- Pathogenic
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; not pro)
- EBI: Pathogenic (in AH3)
- UniProt: Pathogenic (in AH3)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of… (PMID 16984992)
- Cited in: 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. (PMID 20301350)