E434K (p.Glu434Lys) variant of FLCN (Folliculin)
E434K (p.Glu434Lys) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Birt-Hogg-Dube syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
E434K (p.Glu434Lys) variant details
- p.Glu434Lys
- rs1266098984
- ClinGen CA398531574
- ClinVar RCV001036172
- gnomAD rs1266098984
- Likely pathogenic
- Birt-Hogg-Dube syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.61
- CADD 33.00
- PolyPhen-2 0.22
- SIFT 0.01
- ClinVar: Likely pathogenic (Birt-Hogg-Dube syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)