L29V (p.Leu29Val) variant of FLCN (Folliculin)
L29V (p.Leu29Val) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L29V (p.Leu29Val) variant details
- p.Leu29Val
- rs2145048286
- ClinGen CA398535365
- ClinVar RCV003293571
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.35
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)