L11V (p.Leu11Val) variant of EPCAM (P16422)
L11V (p.Leu11Val) in EPCAM (P16422) 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 record also includes structural context.
L11V (p.Leu11Val) variant details
- p.Leu11Val
- 1000Genomes rs1041354853
- TOPMed rs1041354853
- gnomAD rs1041354853
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available