A18A (p.Ala18Ala) variant of EPCAM (P16422)
A18A (p.Ala18Ala) in EPCAM (P16422) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A18A (p.Ala18Ala) variant details
- p.Ala18Ala
- rs2103738194
- gnomAD 2-47369559-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.199
- CADD 6.56
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available