R72H (p.Arg72His) variant of PURA (Q00577)
R72H (p.Arg72His) in PURA (Q00577) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
R72H (p.Arg72His) variant details
- p.Arg72His
- rs2126748830
- ClinGen CA361490140
- ClinVar RCV002052155
- Ensembl rs2126748830
- Uncertain significance
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.34
- MetaSVM -0.28
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (PURA-related severe neonatal hypotonia-seizures-encephalopathy s)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)