G58S (p.Gly58Ser) variant of HNRNPU (Q00839)
G58S (p.Gly58Ser) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G58S (p.Gly58Ser) variant details
- p.Gly58Ser
- rs943805343
- ClinGen CA345497810
- ClinVar RCV002537457
- TOPMed rs943805343
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.23
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 54)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)