L13I (p.Leu13Ile) variant of EPCAM (P16422)
L13I (p.Leu13Ile) 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 0.25 / 1. The record also includes population frequency data and structural context.
L13I (p.Leu13Ile) variant details
- p.Leu13Ile
- TOPMed rs1249838837
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.17
- MetaLR 0.37
- MetaSVM -0.63
- CADD 13.80
- PolyPhen-2 0.06
- SIFT 0.60
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available