M35L (p.Met35Leu) variant of HNRNPU (Q00839)
M35L (p.Met35Leu) 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 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M35L (p.Met35Leu) variant details
- p.Met35Leu
- rs1260819558
- ClinGen CA345498166
- ClinVar RCV003592551
- TOPMed rs1260819558
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.76
- CADD 23.90
- PolyPhen-2 0.28
- SIFT 0.05
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 54)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00039)
- Structural context available
- HNRNPU SAP domain domainome 1.0: score -0.628
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)