L38I (p.Leu38Ile) variant of HNRNPU (Q00839)
L38I (p.Leu38Ile) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy, 54. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes experimental measurements, published literature, and structural context.
L38I (p.Leu38Ile) variant details
- p.Leu38Ile
- rs2102991012
- ClinGen CA345498113
- ClinVar RCV002250051
- Ensembl rs2102991012
- Pathogenic
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.59
- MetaSVM 0.30
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 54)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- HNRNPU SAP domain domainome 1.0: score -0.365
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)