T17R (p.Thr17Arg) variant of EPCAM (P16422)
T17R (p.Thr17Arg) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T17R (p.Thr17Arg) variant details
- p.Thr17Arg
- rs116429842
- ClinGen CA346721411
- ClinVar RCV003293737
- 1000Genomes rs116429842
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.34
- MetaLR 0.32
- MetaSVM -0.64
- CADD 14.80
- PolyPhen-2 0.26
- SIFT 0.36
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- 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)