G10P (p.Gly10Pro) variant of EPCAM (P16422)
G10P (p.Gly10Pro) in EPCAM (P16422) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
G10P (p.Gly10Pro) variant details
- p.Gly10Pro
- rs1265113734
- gnomAD 2-47369099-GGGCGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.159
- CADD 11.10
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available