E109K (p.Glu109Lys) variant of HNRNPU (Q00839)
E109K (p.Glu109Lys) in HNRNPU (Q00839) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes structural context.
E109K (p.Glu109Lys) variant details
- p.Glu109Lys
- TOPMed rs1680930166
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- ESM-1b 0.72
- AlphaMissense 0.32
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available