Q5Q (p.Gln5Gln) variant of EPCAM (P16422)
Q5Q (p.Gln5Gln) in EPCAM (P16422) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
Q5Q (p.Gln5Gln) variant details
- p.Gln5Gln
- rs1671159747
- gnomAD 2-47369520-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.208
- CADD 6.59
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available