A165D (p.Ala165Asp) variant of CYP11B1 (P15538)
A165D (p.Ala165Asp) 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 population frequency data, published literature, and structural context.
A165D (p.Ala165Asp) variant details
- p.Ala165Asp
- rs1554653185
- ClinGen CA372396042
- ClinVar RCV000673116
- UniProt VAR 074508
- Pathogenic
- Deficiency of steroid 11-beta-monooxygenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.68
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (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: 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)