T19I (p.Thr19Ile) variant of EPCAM (P16422)
T19I (p.Thr19Ile) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
T19I (p.Thr19Ile) variant details
- p.Thr19Ile
- TOPMed rs931338743
- gnomAD rs931338743
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.05
- MetaLR 0.20
- MetaSVM -0.98
- CADD 8.16
- PolyPhen-2 0.02
- SIFT 0.24
- Population evidence available
- Structural context available