Q41E (p.Gln41Glu) variant of FLCN (Folliculin)
Q41E (p.Gln41Glu) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Q41E (p.Gln41Glu) variant details
- p.Gln41Glu
- rs1254608489
- ClinGen CA398535288
- ClinVar RCV000703712
- ClinVar RCV002360814
- Uncertain significance
- Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.35
- CADD 13.30
- ClinVar: Uncertain significance (Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Birt-Hogg-Dubé Syndrome. (PMID 20301695)
- Cited in: Canadian guideline on genetic screening for hereditary renal cell cancers. (PMID 24319509)