G10S (p.Gly10Ser) variant of EPCAM (P16422)
G10S (p.Gly10Ser) in EPCAM (P16422) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
G10S (p.Gly10Ser) variant details
- p.Gly10Ser
- rs548433825
- gnomAD 2-47369092-TGGGGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.171
- CADD 12.70
- Most common in the 1KG:LWK population (allele frequency 0.018)
- Structural context available
- Literature evidence available