E109Q (p.Glu109Gln) variant of HNRNPU (Q00839)
E109Q (p.Glu109Gln) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 54. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes published literature and structural context.
E109Q (p.Glu109Gln) variant details
- p.Glu109Gln
- rs1680930166
- ClinGen CA345497373
- ClinVar RCV002471375
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- ESM-1b 0.00
- AlphaMissense 0.62
- MetaLR 0.09
- MetaSVM -0.98
- PolyPhen-2 0.08
- SIFT 0.10
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 54)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)