G10W (p.Gly10Trp) variant of EPCAM (P16422)
G10W (p.Gly10Trp) 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 0.35 / 1. The record also includes population frequency data and structural context.
G10W (p.Gly10Trp) variant details
- p.Gly10Trp
- TOPMed rs863224709
- gnomAD rs863224709
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.22
- MetaLR 0.39
- MetaSVM -0.65
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available