R384Q (p.Arg384Gln) variant of CYP11B1 (P15538)
R384Q (p.Arg384Gln) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldostero. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R384Q (p.Arg384Gln) variant details
- p.Arg384Gln
- rs764598023
- ClinGen CA4905094
- cosmic curated COSV52825
- ClinVar RCV000667465
- Pathogenic/Likely pathogenic
- Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldostero
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.64
- AlphaMissense 0.82
- MetaLR 0.65
- MetaSVM 0.29
- CADD 23.20
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-reme)
- EBI: Pathogenic (in AH4)
- UniProt: Pathogenic (in AH4)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)