R24S (p.Arg24Ser) variant of HNRNPU (Q00839)
R24S (p.Arg24Ser) 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 0.20 / 1. The record also includes experimental measurements, published literature, and structural context.
R24S (p.Arg24Ser) variant details
- p.Arg24Ser
- rs2102991038
- ClinGen CA345498353
- ClinVar RCV002554287
- Ensembl rs2102991038
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- ESM-1b 0.00
- AlphaMissense 0.77
- MetaLR 0.03
- MetaSVM -1.04
- PolyPhen-2 0.01
- SIFT 0.42
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 54)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- HNRNPU SAP domain domainome 1.0: score -0.56
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)