E155D (p.Glu155Asp) variant of HNRNPU (Q00839)
E155D (p.Glu155Asp) 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 0.23 / 1. The record also includes published literature and structural context.
E155D (p.Glu155Asp) variant details
- p.Glu155Asp
- rs776778115
- ClinGen CA345496981
- ClinVar RCV001199195
- ExAC rs776778115
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.07
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 54)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)