E75Q (p.Glu75Gln) variant of HNRNPU (Q00839)
E75Q (p.Glu75Gln) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Developmental and epileptic encephalopathy, 54; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E75Q (p.Glu75Gln) variant details
- p.Glu75Gln
- rs773969888
- ClinGen CA1486843
- ClinVar RCV002561746
- ExAC rs773969888
- Likely benign
- Developmental and epileptic encephalopathy, 54; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 23.60
- PolyPhen-2 0.47
- SIFT 0.20
- ClinVar: Likely benign (Developmental and epileptic encephalopathy, 54; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00012)
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)