V28D (p.Val28Asp) variant of EPCAM (P16422)
V28D (p.Val28Asp) 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.
V28D (p.Val28Asp) variant details
- p.Val28Asp
- Ensembl rs2103745515
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Structural context available