L11F (p.Leu11Phe) variant of EPCAM (P16422)
L11F (p.Leu11Phe) 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 0.41 / 1. The record also includes population frequency data and structural context.
L11F (p.Leu11Phe) variant details
- p.Leu11Phe
- 1000Genomes rs1041354853
- TOPMed rs1041354853
- gnomAD rs1041354853
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.39
- MetaLR 0.64
- MetaSVM -0.03
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available