A14A (p.Ala14Ala) variant of EPCAM (P16422)
A14A (p.Ala14Ala) in EPCAM (P16422) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A14A (p.Ala14Ala) variant details
- p.Ala14Ala
- rs1443794590
- gnomAD 2-47369117-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.127
- CADD 6.56
- Most common in the Non-Finnish European population (allele frequency 2e-06)
- Structural context available
- Literature evidence available