T17M (p.Thr17Met) variant of EPCAM (P16422)
T17M (p.Thr17Met) in EPCAM (P16422) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Lynch syndrome 8; Hereditary nonpolyposis colorectal neoplasms. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
T17M (p.Thr17Met) variant details
- p.Thr17Met
- rs116429842
- ClinGen CA334054
- ClinVar RCV000825333
- ClinVar RCV001850372
- Uncertain significance
- not specified; Lynch syndrome 8; Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.09
- MetaLR 0.33
- MetaSVM -0.68
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Uncertain significance (not specified; Lynch syndrome 8; Hereditary nonpolyposis colorec)
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.00021)
- 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)