C66Y (p.Cys66Tyr) variant of EPCAM (P16422)
C66Y (p.Cys66Tyr) in EPCAM (P16422) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital diarrhea 5 with tufting enteropathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
C66Y (p.Cys66Tyr) variant details
- p.Cys66Tyr
- rs267606785
- ClinGen CA122700
- cosmic curated COSV55394
- ClinVar RCV000013611
- Pathogenic
- Congenital diarrhea 5 with tufting enteropathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.90
- MetaLR 0.81
- MetaSVM 0.74
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Congenital diarrhea 5 with tufting enteropathy)
- EBI: Pathogenic (in DIAR5)
- UniProt: Pathogenic (in DIAR5)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Identification of EpCAM as the gene for congenital tufting enteropathy. (PMID 18572020)
- Cited in: Absence of cell-surface EpCAM in congenital tufting enteropathy. (PMID 23462293)