E25K (p.Glu25Lys) variant of EPCAM (P16422)
E25K (p.Glu25Lys) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
E25K (p.Glu25Lys) variant details
- p.Glu25Lys
- rs1671138189
- gnomAD 2-47369079-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- CADD 5.68
- Population evidence available
- Structural context available
- Literature evidence available