G51V (p.Gly51Val) variant of FLCN (Folliculin)
G51V (p.Gly51Val) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
G51V (p.Gly51Val) variant details
- p.Gly51Val
- rs2145044590
- ClinGen CA398535215
- ClinVar RCV003360556
- Ensembl rs2145044590
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.65
- CADD 21.70
- PolyPhen-2 0.28
- SIFT 0.24
- 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)