A16A (p.Ala16Ala) variant of EPCAM (P16422)
A16A (p.Ala16Ala) 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.
A16A (p.Ala16Ala) variant details
- p.Ala16Ala
- rs2103738145
- gnomAD 2-47369553-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.134
- CADD 7.58
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available