G153R (p.Gly153Arg) variant of HNRNPU (Q00839)
G153R (p.Gly153Arg) 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 0.38 / 1. The record also includes published literature and structural context.
G153R (p.Gly153Arg) variant details
- p.Gly153Arg
- rs1680925916
- ClinGen CA345497021
- ClinVar RCV002547386
- Ensembl rs1680925916
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- ESM-1b 0.50
- AlphaMissense 0.35
- MetaLR 0.06
- MetaSVM -1.05
- PolyPhen-2 0.43
- SIFT 0.11
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 54)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)