E26G (p.Glu26Gly) variant of EPCAM (P16422)
E26G (p.Glu26Gly) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
E26G (p.Glu26Gly) variant details
- p.Glu26Gly
- Ensembl rs1312021137
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.14
- MetaLR 0.13
- MetaSVM -0.94
- CADD 7.55
- PolyPhen-2 0.00
- SIFT 0.62
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available