P4L (p.Pro4Leu) variant of EPCAM (P16422)
P4L (p.Pro4Leu) 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; Lynch syndrome 8; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- rs778641299
- ClinGen CA46685548
- ClinVar RCV000780223
- ClinVar RCV002493425
- Uncertain significance
- Congenital diarrhea 5 with tufting enteropathy; Lynch syndrome 8; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.10
- MetaLR 0.37
- MetaSVM -0.84
- CADD 8.36
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Congenital diarrhea 5 with tufting enteropathy; Lynch syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines… (PMID 34043773)