E46A (p.Glu46Ala) variant of HNRNPU (Q00839)
E46A (p.Glu46Ala) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Developmental and epileptic encephalopathy, 54; heterogeneous nuclear ribonucleo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E46A (p.Glu46Ala) variant details
- p.Glu46Ala
- rs2102990989
- ClinGen CA345497989
- ClinVar RCV001961698
- ClinVar RCV003330104
- Conflicting interpretations
- Developmental and epileptic encephalopathy, 54; heterogeneous nuclear ribonucleo
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 22.60
- PolyPhen-2 0.07
- SIFT 0.45
- ClinVar: Conflicting classifications of pathogenicity (Developmental and epileptic encephalopathy, 54; heterogeneous nu)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- HNRNPU SAP domain domainome 1.0: score -0.329
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)