M1L (p.Met1Leu) variant of HNRNPU (Q00839)
M1L (p.Met1Leu) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs546427799
- ClinGen CA1486880
- ClinVar RCV003592637
- Pathogenic
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.20
- MetaSVM -0.70
- PolyPhen-2 0.39
- SIFT 0.00
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 54)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)