V24L (p.Val24Leu) variant of FLCN (Folliculin)
V24L (p.Val24Leu) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
V24L (p.Val24Leu) variant details
- p.Val24Leu
- rs775626774
- ClinGen CA8416527
- ClinVar RCV001040382
- ClinVar RCV002363572
- Uncertain significance
- Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.42
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.28
- 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 2.7e-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)