R332Q (p.Arg332Gln) variant of CYP11B1 (P15538)
R332Q (p.Arg332Gln) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Glucocorticoid-remediable aldosteronism; Deficiency of steroid 11-beta-monooxyge. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R332Q (p.Arg332Gln) variant details
- p.Arg332Gln
- rs149881706
- ClinGen CA344785
- cosmic curated COSV52825
- ClinVar RCV000050227
- Pathogenic/Likely pathogenic
- Glucocorticoid-remediable aldosteronism; Deficiency of steroid 11-beta-monooxyge
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.82
- AlphaMissense 0.20
- MetaLR 0.44
- MetaSVM -0.11
- CADD 25.20
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Glucocorticoid-remediable aldosteronism; Deficiency of steroid 1)
- EBI: Pathogenic (in AH4)
- UniProt: Pathogenic (in AH4)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations. (PMID 24022297)
- Cited in: 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia. (PMID 16046588)