G32E (p.Gly32Glu) variant of FLCN (Folliculin)
G32E (p.Gly32Glu) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Birt-Hogg-Dube syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G32E (p.Gly32Glu) variant details
- p.Gly32Glu
- rs587778366
- ClinGen CA159764
- ClinVar RCV000121100
- ClinVar RCV001019544
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Birt-Hogg-Dube syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.31
- CADD 22.70
- PolyPhen-2 0.06
- SIFT 0.57
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Birt-Hogg)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.2e-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)