A14D (p.Ala14Asp) variant of EPCAM (P16422)
A14D (p.Ala14Asp) 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.
A14D (p.Ala14Asp) variant details
- p.Ala14Asp
- TOPMed rs1444994616
- gnomAD rs1444994616
- 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