A368D (p.Ala368Asp) variant of CYP11B1 (P15538)
A368D (p.Ala368Asp) 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 0.71 / 1. The record also includes published literature and structural context.
A368D (p.Ala368Asp) variant details
- p.Ala368Asp
- rs104894071
- ClinGen CA339884
- ClinVar RCV000001246
- UniProt VAR 074522
- Pathogenic
- Deficiency of steroid 11-beta-monooxygenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- AlphaMissense 0.55
- MetaLR 0.64
- MetaSVM 0.57
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.83
- ClinVar: Pathogenic (Deficiency of steroid 11-beta-monooxygenase)
- EBI: Pathogenic (in AH4)
- UniProt: Pathogenic (in AH4)
- Structural context available
- Cited in: Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene… (PMID 16670167)
- Cited in: Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and… (PMID 20089618)