C27R (p.Cys27Arg) variant of EPCAM (P16422)
C27R (p.Cys27Arg) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
C27R (p.Cys27Arg) variant details
- p.Cys27Arg
- rs2103745496
- ClinGen CA346722374
- ClinVar RCV003306643
- Ensembl rs2103745496
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.84
- AlphaMissense 0.96
- MetaLR 0.66
- MetaSVM 0.43
- CADD 25.60
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)