Q24H (p.Gln24His) variant of EPCAM (P16422)
Q24H (p.Gln24His) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Q24H (p.Gln24His) variant details
- p.Gln24His
- rs1168138313
- ClinGen CA346721478
- ClinVar RCV004385346
- TOPMed rs1168138313
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.24
- MetaLR 0.33
- MetaSVM -0.75
- CADD 10.60
- PolyPhen-2 0.20
- SIFT 0.13
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)