G111A (p.Gly111Ala) variant of HNRNPU (Q00839)
G111A (p.Gly111Ala) 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 0.27 / 1. The record also includes published literature and structural context.
G111A (p.Gly111Ala) variant details
- p.Gly111Ala
- rs2527895375
- ClinGen CA345497353
- ClinVar RCV003591393
- Likely benign
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- ESM-1b 0.00
- AlphaMissense 0.09
- ClinVar: Likely benign (Developmental and epileptic encephalopathy, 54)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)