G64R (p.Gly64Arg) variant of HNRNPU (Q00839)
G64R (p.Gly64Arg) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G64R (p.Gly64Arg) variant details
- p.Gly64Arg
- rs757262771
- ClinGen CA1486849
- ClinVar RCV003757397
- ExAC rs757262771
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 24.40
- PolyPhen-2 0.18
- SIFT 0.02
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 54)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)