K21E (p.Lys21Glu) variant of HNRNPU (Q00839)
K21E (p.Lys21Glu) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy, 54. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes experimental measurements, published literature, and structural context.
K21E (p.Lys21Glu) variant details
- p.Lys21Glu
- rs777663267
- ClinGen CA345498394
- ClinVar RCV002466336
- Likely pathogenic
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.989
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 54)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- HNRNPU SAP domain domainome 1.0: score -0.398
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)