L19P (p.Leu19Pro) variant of FLCN (Folliculin)
L19P (p.Leu19Pro) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- rs2047313909
- ClinGen CA398535419
- ClinVar RCV001055395
- Ensembl rs2047313909
- Uncertain significance
- Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.94
- CADD 29.60
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)