E45Q (p.Glu45Gln) variant of HNRNPU (Q00839)
E45Q (p.Glu45Gln) 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 0.45 / 1. The record also includes experimental measurements, published literature, and structural context.
E45Q (p.Glu45Gln) variant details
- p.Glu45Gln
- rs1680938345
- ClinGen CA345498007
- ClinVar RCV001169993
- Ensembl rs1680938345
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- ESM-1b 0.46
- AlphaMissense 0.56
- MetaLR 0.31
- MetaSVM -0.38
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 54)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- HNRNPU SAP domain domainome 1.0: score -0.619
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)