G379V (p.Gly379Val) variant of CYP11B1 (P15538)
G379V (p.Gly379Val) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Deficiency of steroid 11-beta-monooxygenase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G379V (p.Gly379Val) variant details
- p.Gly379Val
- rs1816901292
- ClinGen CA372392611
- ClinVar RCV001219956
- ClinVar RCV003469377
- Likely pathogenic
- not provided; Deficiency of steroid 11-beta-monooxygenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.42
- CADD 20.80
- PolyPhen-2 0.71
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Deficiency of steroid 11-beta-monooxygenase)
- EBI: Pathogenic (in AH4)
- UniProt: Pathogenic (in AH4)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Only two mutations detected in 15 Tunisian patients with 11β-hydroxylase deficiency: the p.Q356X and the novel p.G379V. (PMID 20331679)
- Cited in: 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia. (PMID 16046588)