E26K (p.Glu26Lys) variant of EPCAM (P16422)
E26K (p.Glu26Lys) in EPCAM (P16422) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E26K (p.Glu26Lys) variant details
- p.Glu26Lys
- rs764492954
- ClinGen CA1648812
- ClinVar RCV005090171
- ExAC rs764492954
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.14
- MetaLR 0.32
- MetaSVM -0.56
- CADD 29.90
- PolyPhen-2 0.01
- SIFT 0.68
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available