L7I (p.Leu7Ile) variant of EPCAM (P16422)
L7I (p.Leu7Ile) in EPCAM (P16422) is a missense change. Clinical records from ClinVar 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 0.32 / 1. The record also includes population frequency data and structural context.
L7I (p.Leu7Ile) variant details
- p.Leu7Ile
- Ensembl rs2103737980
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.30
- AlphaMissense 0.10
- MetaLR 0.45
- MetaSVM -0.43
- CADD 15.30
- PolyPhen-2 0.94
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available