R340H (p.Arg340His) variant of CYP21A2 (Steroid 21-hydroxylase)
R340H (p.Arg340His) 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 0.45 / 1. The record also includes population frequency data and published literature.
R340H (p.Arg340His) variant details
- p.Arg340His
- rs72552754
- ClinGen CA3732614
- ClinVar RCV000012952
- ClinVar RCV003318405
- Pathogenic
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- CADD 23.50
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia)
- EBI: Pathogenic (in AH3)
- UniProt: Pathogenic (in AH3)
- Most common in the African/African-American population (allele frequency 3e-05)
- Cited in: R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent… (PMID 1406709)
- Cited in: 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. (PMID 20301350)