E19Q (p.Glu19Gln) variant of HNRNPU (Q00839)
E19Q (p.Glu19Gln) 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 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E19Q (p.Glu19Gln) variant details
- p.Glu19Gln
- rs1232667140
- ClinGen CA345498430
- ClinVar RCV003011978
- TOPMed rs1232667140
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- ESM-1b 0.78
- AlphaMissense 0.98
- MetaLR 0.21
- MetaSVM -0.55
- PolyPhen-2 0.12
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 54)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- HNRNPU SAP domain domainome 1.0: score -0.647
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)