G50D (p.Gly50Asp) variant of FLCN (Folliculin)
G50D (p.Gly50Asp) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome; Birt-Hogg-Dube. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G50D (p.Gly50Asp) variant details
- p.Gly50Asp
- rs1166116743
- ClinGen CA398535223
- ClinVar RCV000793095
- ClinVar RCV004949905
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome; Birt-Hogg-Dube
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.39
- CADD 23.80
- PolyPhen-2 0.50
- SIFT 0.11
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-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)