A8A (p.Ala8Ala) variant of EPCAM (P16422)
A8A (p.Ala8Ala) 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.
A8A (p.Ala8Ala) variant details
- p.Ala8Ala
- rs777677935
- gnomAD 2-47369529-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.127
- CADD 6.49
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available