N133H (p.Asn133His) variant of CYP11B1 (P15538)
N133H (p.Asn133His) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Deficiency of steroid 11-beta-monooxygenase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
N133H (p.Asn133His) variant details
- p.Asn133His
- rs104894067
- ClinGen CA339880
- ClinVar RCV000001236
- UniProt VAR 001261
- Pathogenic
- Deficiency of steroid 11-beta-monooxygenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- AlphaMissense 0.23
- MetaLR 0.34
- MetaSVM -0.25
- PolyPhen-2 0.99
- SIFT 0.09
- ClinVar: Pathogenic (Deficiency of steroid 11-beta-monooxygenase)
- EBI: Pathogenic (in AH4)
- UniProt: Pathogenic (in AH4)
- 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: CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency. (PMID 9302260)