P55S (p.Pro55Ser) variant of HNRNPU (Q00839)
P55S (p.Pro55Ser) 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 0.23 / 1. The record also includes published literature and structural context.
P55S (p.Pro55Ser) variant details
- p.Pro55Ser
- rs1680936789
- ClinGen CA345497856
- ClinVar RCV003821113
- TOPMed rs1680936789
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.05
- MetaSVM -0.93
- PolyPhen-2 0.00
- SIFT 0.43
- 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)