G58R (p.Gly58Arg) variant of HNRNPU (Q00839)
G58R (p.Gly58Arg) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G58R (p.Gly58Arg) variant details
- p.Gly58Arg
- rs943805343
- ClinGen CA40505294
- ClinVar RCV003757321
- TOPMed rs943805343
- Likely benign
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.10
- ESM-1b 0.01
- AlphaMissense 0.37
- CADD 23.90
- PolyPhen-2 0.25
- SIFT 0.03
- ClinVar: Likely benign (Developmental and epileptic encephalopathy, 54)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)