R374Q (p.Arg374Gln) variant of CYP11B1 (P15538)
R374Q (p.Arg374Gln) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Deficiency of steroid 11-beta-monooxygenase; Congenital adrenal hyperplasia; not. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R374Q (p.Arg374Gln) variant details
- p.Arg374Gln
- rs104894062
- ClinGen CA339877
- cosmic curated COSV99455
- ClinVar RCV000001233
- Likely pathogenic
- Deficiency of steroid 11-beta-monooxygenase; Congenital adrenal hyperplasia; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.92
- CADD 34.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Deficiency of steroid 11-beta-monooxygenase; Congenital adrenal)
- EBI: Pathogenic (in AH4)
- UniProt: Pathogenic (in AH4)
- Population evidence available
- 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)