R409C (p.Arg409Cys) variant of CYP21A2 (Steroid 21-hydroxylase)
R409C (p.Arg409Cys) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and published literature.
R409C (p.Arg409Cys) variant details
- p.Arg409Cys
- rs72552757
- ClinGen CA3732711
- ClinVar RCV000012961
- ClinVar RCV002472928
- Pathogenic
- not provided; 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- CADD 25.40
- PolyPhen-2 0.70
- SIFT 0.00
- ClinVar: Pathogenic (not provided; 21-Hydroxylase-Deficient Congenital Adrenal Hyperp)
- EBI: Pathogenic (in AH3)
- UniProt: Pathogenic (in AH3)
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Cited in: Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a… (PMID 12213891)
- Cited in: Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian… (PMID 18381579)