E48V (p.Glu48Val) variant of FLCN (Folliculin)
E48V (p.Glu48Val) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar 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 0.59 / 1. The record also includes population frequency data and structural context.
E48V (p.Glu48Val) variant details
- p.Glu48Val
- Ensembl rs2145045195
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.58
- CADD 24.50
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available