G141R (p.Gly141Arg) variant of HNRNPU (Q00839)
G141R (p.Gly141Arg) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Developmental and epileptic encephalopathy, 54. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
G141R (p.Gly141Arg) variant details
- p.Gly141Arg
- rs2527895152
- ClinGen CA345497154
- ClinVar RCV002472219
- Conflicting interpretations
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- ESM-1b 0.33
- AlphaMissense 0.81
- ClinVar: Conflicting classifications of pathogenicity (Developmental and epileptic encephalopathy, 54)
- UniProt: Conflicting interpretations
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)