E150D (p.Glu150Asp) variant of HNRNPU (Q00839)
E150D (p.Glu150Asp) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Developmental and epileptic encephalopathy, 54. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes published literature and structural context.
E150D (p.Glu150Asp) variant details
- p.Glu150Asp
- rs1461052775
- ClinGen CA345497050
- ClinVar RCV003591268
- ClinVar RCV004765897
- Uncertain significance
- not provided; Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.08
- ClinVar: Uncertain significance (not provided; Developmental and epileptic encephalopathy, 54)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)