E124Q (p.Glu124Gln) variant of HNRNPU (Q00839)
E124Q (p.Glu124Gln) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E124Q (p.Glu124Gln) variant details
- p.Glu124Gln
- rs1473996679
- ClinGen CA345497274
- ClinVar RCV002823696
- TOPMed rs1473996679
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 22.40
- PolyPhen-2 0.05
- SIFT 0.27
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 54)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00046)
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)