L13H (p.Leu13His) variant of EPCAM (P16422)
L13H (p.Leu13His) 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 0.54 / 1. The record also includes population frequency data and structural context.
L13H (p.Leu13His) variant details
- p.Leu13His
- ExAC rs776646187
- gnomAD rs776646187
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.51
- MetaLR 0.54
- MetaSVM 0.22
- CADD 23.50
- PolyPhen-2 0.77
- SIFT 0.17
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available