L7M (p.Leu7Met) variant of EPCAM (P16422)
L7M (p.Leu7Met) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L7M (p.Leu7Met) variant details
- p.Leu7Met
- gnomAD 2-47369091-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- CADD 10.70
- Population evidence available
- Structural context available
- Literature evidence available