Q5A (p.Gln5Ala) variant of EPCAM (P16422)
Q5A (p.Gln5Ala) in EPCAM (P16422) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Q5A (p.Gln5Ala) variant details
- p.Gln5Ala
- gnomAD 2-47369511-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.534
- CADD 26.50
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available