R166C (p.Arg166Cys) variant of PURA (Q00577)
R166C (p.Arg166Cys) in PURA (Q00577) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
R166C (p.Arg166Cys) variant details
- p.Arg166Cys
- rs1554129096
- ClinGen CA361490905
- ClinVar RCV000578340
- Ensembl rs1554129096
- Likely pathogenic
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.37
- MetaSVM -0.15
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Likely pathogenic (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)