L7W (p.Leu7Trp) variant of EPCAM (P16422)
L7W (p.Leu7Trp) in EPCAM (P16422) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L7W (p.Leu7Trp) variant details
- p.Leu7Trp
- rs36097813
- gnomAD 2-47369089-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.14
- CADD 8.33
- Population evidence available
- Structural context available
- Literature evidence available