R453Q (p.Arg453Gln) variant of CYP11B1 (P15538)
R453Q (p.Arg453Gln) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remedi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R453Q (p.Arg453Gln) variant details
- p.Arg453Gln
- rs1447069098
- ClinGen CA372391389
- ClinVar RCV001063066
- ClinVar RCV002282447
- Pathogenic
- not provided; Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remedi
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.60
- CADD 22.80
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Deficiency of steroid 11-beta-monooxygenase; Gluco)
- EBI: Pathogenic (in AH4)
- UniProt: Pathogenic (in AH4)
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Cited in: Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and… (PMID 20089618)
- Cited in: 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia. (PMID 16046588)