E434Q (p.Glu434Gln) variant of FLCN (Folliculin)
E434Q (p.Glu434Gln) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
E434Q (p.Glu434Gln) variant details
- p.Glu434Gln
- rs1266098984
- ClinGen CA398531572
- ClinVar RCV002380844
- ClinVar RCV006634005
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.55
- CADD 34.00
- PolyPhen-2 0.79
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Birt-Hogg-Dubé Syndrome. (PMID 20301695)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)