A22T (p.Ala22Thr) variant of EPCAM (P16422)
A22T (p.Ala22Thr) 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; Lynch syndrome 8. 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.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- rs2103738227
- ClinGen CA346721453
- ClinVar RCV002254857
- ClinVar RCV003164362
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Lynch syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.12
- MetaLR 0.29
- MetaSVM -0.82
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Lynch syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)