R448H (p.Arg448His) variant of CYP11B1 (P15538)
R448H (p.Arg448His) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R448H (p.Arg448His) variant details
- p.Arg448His
- rs28934586
- ClinGen CA339875
- ClinVar RCV000001230
- ClinVar RCV000791917
- Pathogenic/Likely pathogenic
- Glucocorticoid-remediable aldosteronism; Deficiency of steroid 11-beta-monooxyge
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.88
- AlphaMissense 0.40
- MetaLR 0.71
- MetaSVM 0.66
- CADD 24.80
- 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 Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews. (PMID 16030166)
- Cited in: 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia. (PMID 16046588)