E25Q (p.Glu25Gln) variant of EPCAM (P16422)
E25Q (p.Glu25Gln) in EPCAM (P16422) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E25Q (p.Glu25Gln) variant details
- p.Glu25Gln
- gnomAD rs1385489500
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available