G10E (p.Gly10Glu) variant of EPCAM (P16422)
G10E (p.Gly10Glu) 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 0.21 / 1. The record also includes population frequency data and structural context.
G10E (p.Gly10Glu) variant details
- p.Gly10Glu
- TOPMed rs1237227676
- gnomAD rs1237227676
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- CADD 8.53
- SIFT 0.09
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available