T17K (p.Thr17Lys) variant of EPCAM (P16422)
T17K (p.Thr17Lys) in EPCAM (P16422) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; Hereditary cancer-predisposing syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
T17K (p.Thr17Lys) variant details
- p.Thr17Lys
- rs116429842
- ClinGen CA290750
- ClinVar RCV000124898
- ClinVar RCV000212492
- Benign
- not provided; Hereditary cancer-predisposing syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.13
- MetaLR 0.06
- MetaSVM -0.90
- CADD 10.40
- PolyPhen-2 0.18
- SIFT 0.32
- ClinVar: Benign (not provided; Hereditary cancer-predisposing syndrome; not speci)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:LWK population (allele frequency 0.093)
- 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)
- Cited in: Lynch Syndrome. (PMID 20301390)