C27G (p.Cys27Gly) variant of EPCAM (P16422)
C27G (p.Cys27Gly) in EPCAM (P16422) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital diarrhea 5 with tufting enteropathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes structural context.
C27G (p.Cys27Gly) variant details
- p.Cys27Gly
- rs2103745496
- ClinGen CA346722375
- ClinVar RCV002465074
- Uncertain significance
- Congenital diarrhea 5 with tufting enteropathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- AlphaMissense 0.96
- MetaLR 0.66
- MetaSVM 0.43
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Uncertain significance (Congenital diarrhea 5 with tufting enteropathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available