E25A (p.Glu25Ala) variant of EPCAM (P16422)
E25A (p.Glu25Ala) 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.
E25A (p.Glu25Ala) variant details
- p.Glu25Ala
- rs1671138239
- gnomAD 2-47369080-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- CADD 5.90
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available