A14E (p.Ala14Glu) variant of EPCAM (P16422)
A14E (p.Ala14Glu) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A14E (p.Ala14Glu) variant details
- p.Ala14Glu
- gnomAD 2-47369116-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- CADD 6.60
- Most common in the Latino/Admixed American population (allele frequency 0.0001)
- Structural context available
- Literature evidence available