R50L (p.Arg50Leu) variant of HNRNPU (Q00839)
R50L (p.Arg50Leu) 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 0.24 / 1. The record also includes published literature and structural context.
R50L (p.Arg50Leu) variant details
- p.Arg50Leu
- rs1573338421
- ClinGen CA345497931
- ClinVar RCV006464311
- Ensembl rs1573338421
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.07
- MetaSVM -1.01
- PolyPhen-2 0.36
- SIFT 0.09
- 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)