E26D (p.Glu26Asp) variant of EPCAM (P16422)
E26D (p.Glu26Asp) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
E26D (p.Glu26Asp) variant details
- p.Glu26Asp
- Ensembl rs2103745491
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.10
- MetaLR 0.10
- MetaSVM -0.97
- CADD 0.23
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available