G71R (p.Gly71Arg) variant of HNRNPU (Q00839)
G71R (p.Gly71Arg) 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.
G71R (p.Gly71Arg) variant details
- p.Gly71Arg
- rs1680934795
- ClinGen CA345497632
- ClinVar RCV002538477
- Ensembl rs1680934795
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.24
- CADD 22.60
- PolyPhen-2 0.15
- SIFT 0.05
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 54)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)