L7V (p.Leu7Val) variant of EPCAM (P16422)
L7V (p.Leu7Val) 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 0.46 / 1. The record also includes published literature and structural context.
L7V (p.Leu7Val) variant details
- p.Leu7Val
- rs2103737980
- ClinGen CA346721330
- ClinVar RCV003387034
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- AlphaMissense 0.10
- MetaLR 0.45
- MetaSVM -0.43
- PolyPhen-2 0.94
- SIFT 0.04
- MutPred 0.20
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)