G101R (p.Gly101Arg) variant of HNRNPU (Q00839)
G101R (p.Gly101Arg) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Developmental and epileptic encephalopathy, 54. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
G101R (p.Gly101Arg) variant details
- p.Gly101Arg
- rs1680930955
- ClinGen CA345497427
- ClinVar RCV002541914
- Ensembl rs1680930955
- Likely benign
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- ESM-1b 0.33
- AlphaMissense 0.48
- MetaLR 0.07
- MetaSVM -1.09
- PolyPhen-2 0.94
- SIFT 0.04
- ClinVar: Likely benign (Developmental and epileptic encephalopathy, 54)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)