P16L (p.Pro16Leu) variant of FLCN (Folliculin)
P16L (p.Pro16Leu) 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; Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- rs1597618496
- ClinGen CA398535433
- ClinVar RCV001246982
- ClinVar RCV002339686
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.96
- CADD 28.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Birt-Hogg)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)