L13V (p.Leu13Val) variant of EPCAM (P16422)
L13V (p.Leu13Val) in EPCAM (P16422) 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.
L13V (p.Leu13Val) variant details
- p.Leu13Val
- TOPMed rs1249838837
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Structural context available