D27E (p.Asp27Glu) variant of HNRNPU (Q00839)
D27E (p.Asp27Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes experimental measurements, published literature, and structural context.
D27E (p.Asp27Glu) variant details
- p.Asp27Glu
- rs1259160579
- ClinGen CA345498299
- ClinVar RCV002843938
- Likely benign
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- ESM-1b 0.00
- AlphaMissense 0.88
- ClinVar: Likely benign (Developmental and epileptic encephalopathy, 54)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- HNRNPU SAP domain domainome 1.0: score -0.264
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)