L25V (p.Leu25Val) variant of FLCN (Folliculin)
L25V (p.Leu25Val) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L25V (p.Leu25Val) variant details
- p.Leu25Val
- rs967684437
- ClinGen CA288320798
- ClinVar RCV002265462
- ClinVar RCV004948664
- Uncertain significance
- not provided; Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.26
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Uncertain significance (not provided; Birt-Hogg-Dube syndrome; Hereditary cancer-predisp)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- 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)