E47Q (p.Glu47Gln) variant of FLCN (Folliculin)
E47Q (p.Glu47Gln) 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; Nonpapillary renal cell carcinoma; Colorectal cancer. 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.
E47Q (p.Glu47Gln) variant details
- p.Glu47Gln
- rs369115472
- ClinGen CA196505
- cosmic curated COSV53258
- NCI-TCGA Cosmic COSV9955
- Conflicting interpretations
- Birt-Hogg-Dube syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.42
- CADD 21.20
- PolyPhen-2 0.04
- SIFT 0.45
- ClinVar: Conflicting classifications of pathogenicity (Birt-Hogg-Dube syndrome; Nonpapillary renal cell carcinoma; Colo)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Potocki-Lupski Syndrome. (PMID 28837307)
- Cited in: Birt-Hogg-Dubé Syndrome. (PMID 20301695)