A15G (p.Ala15Gly) variant of EPCAM (P16422)
A15G (p.Ala15Gly) 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.
A15G (p.Ala15Gly) variant details
- p.Ala15Gly
- TOPMed rs1171073693
- gnomAD rs1171073693
- 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