V40L (p.Val40Leu) variant of MEN1 (Menin)
V40L (p.Val40Leu) in MEN1 (Menin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes structural context.
V40L (p.Val40Leu) variant details
- p.Val40Leu
- Ensembl rs2136193531
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Structural context available