L11I (p.Leu11Ile) variant of EPCAM (P16422)
L11I (p.Leu11Ile) in EPCAM (P16422) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L11I (p.Leu11Ile) variant details
- p.Leu11Ile
- 1000Genomes rs1041354853
- TOPMed rs1041354853
- gnomAD rs1041354853
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.29
- MetaLR 0.61
- MetaSVM -0.26
- CADD 23.00
- PolyPhen-2 0.98
- SIFT 0.36
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available