P4R (p.Pro4Arg) variant of EPCAM (P16422)
P4R (p.Pro4Arg) 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 0.42 / 1. The record also includes population frequency data and structural context.
P4R (p.Pro4Arg) variant details
- p.Pro4Arg
- rs2465443187
- ClinGen CA2580066557
- ClinVar RCV003164635
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.23
- MetaLR 0.48
- MetaSVM -0.52
- CADD 16.10
- PolyPhen-2 0.50
- SIFT 0.69
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available