G111R (p.Gly111Arg) variant of HNRNPU (Q00839)
G111R (p.Gly111Arg) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 54. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes structural context.
G111R (p.Gly111Arg) variant details
- p.Gly111Arg
- Ensembl rs1573338062
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- ESM-1b 0.34
- AlphaMissense 0.31
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 54)
- UniProt: Uncertain significance
- Structural context available