R355H (p.Arg355His) variant of CYP21A2 (Steroid 21-hydroxylase)
R355H (p.Arg355His) 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 Congenital adrenal hyperplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R355H (p.Arg355His) variant details
- p.Arg355His
- TOPMed rs1384642822
- gnomAD rs1384642822
- Likely pathogenic
- Congenital adrenal hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- AlphaMissense 0.68
- MetaLR 0.88
- MetaSVM 0.83
- CADD 23.90
- PolyPhen-2 0.86
- SIFT 0.04
- ClinVar: Likely pathogenic (Congenital adrenal hyperplasia)
- EBI: Pathogenic (in AH3)
- UniProt: Pathogenic (in AH3)
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available
- Cited in: Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative… (PMID 10364682)
- Cited in: Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase… (PMID 20080860)