F79I (p.Phe79Ile) variant of CYP11B1 (P15538)
F79I (p.Phe79Ile) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Differences in sex development; Congenital adrenal hyperplasia; Deficiency of st. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
F79I (p.Phe79Ile) variant details
- p.Phe79Ile
- rs1489638195
- ClinGen CA372397068
- ClinVar RCV000665385
- ClinVar RCV002271551
- Pathogenic/Likely pathogenic
- Differences in sex development; Congenital adrenal hyperplasia; Deficiency of st
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.60
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Differences in sex development; Congenital adrenal hyperplasia;)
- EBI: Pathogenic (in AH4)
- UniProt: Pathogenic (in AH4)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: A diagnosis not to be missed: nonclassic steroid 11β-hydroxylase deficiency presenting with premature adrenarche and… (PMID 23940125)
- Cited in: 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia. (PMID 16046588)