A3V (p.Ala3Val) variant of FLCN (Folliculin)
A3V (p.Ala3Val) 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 record also includes structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- Ensembl rs2145051173
- Uncertain significance
- Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available