A14G (p.Ala14Gly) variant of EPCAM (P16422)
A14G (p.Ala14Gly) 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.
A14G (p.Ala14Gly) variant details
- p.Ala14Gly
- gnomAD 2-47369116-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 6.78
- Most common in the Non-Finnish European population (allele frequency 6.9e-06)
- Structural context available
- Literature evidence available