L7H (p.Leu7His) variant of EPCAM (P16422)
L7H (p.Leu7His) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L7H (p.Leu7His) variant details
- p.Leu7His
- rs878854486
- ClinGen CA10581971
- ClinVar RCV002418008
- ClinVar RCV005090160
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.42
- MetaLR 0.55
- MetaSVM -0.39
- CADD 22.30
- PolyPhen-2 0.84
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- 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)