L13F (p.Leu13Phe) variant of EPCAM (P16422)
L13F (p.Leu13Phe) in EPCAM (P16422) is a missense change. 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.
L13F (p.Leu13Phe) variant details
- p.Leu13Phe
- TOPMed rs1249838837
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.31
- MetaLR 0.47
- MetaSVM -0.06
- CADD 19.30
- PolyPhen-2 0.54
- SIFT 0.30
- Population evidence available
- Structural context available