A23P (p.Ala23Pro) variant of EPCAM (P16422)
A23P (p.Ala23Pro) 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.
A23P (p.Ala23Pro) variant details
- p.Ala23Pro
- gnomAD rs1671161764
- 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