L42M (p.Leu42Met) variant of HNRNPU (Q00839)
L42M (p.Leu42Met) 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 0.37 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L42M (p.Leu42Met) variant details
- p.Leu42Met
- rs1364614921
- ClinGen CA345498052
- ClinVar RCV002642033
- TOPMed rs1364614921
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.26
- ESM-1b 0.31
- AlphaMissense 0.58
- CADD 22.70
- PolyPhen-2 0.44
- SIFT 0.06
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 54)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- HNRNPU SAP domain domainome 1.0: score -0.631
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)