E43D (p.Glu43Asp) variant of FLCN (Folliculin)
E43D (p.Glu43Asp) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
E43D (p.Glu43Asp) variant details
- p.Glu43Asp
- rs760808366
- ExAC rs760808366
- TOPMed rs760808366
- gnomAD rs760808366
- Conflicting interpretations
- Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.22
- CADD 6.64
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Conflicting classifications of pathogenicity (Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)