R199C (p.Arg199Cys) variant of PURA (Q00577)
R199C (p.Arg199Cys) in PURA (Q00577) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
R199C (p.Arg199Cys) variant details
- p.Arg199Cys
- rs1763051347
- ClinGen CA361491110
- ClinVar RCV001338247
- ClinVar RCV003317481
- Conflicting interpretations
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.28
- MetaSVM -0.41
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (PURA-related severe neonatal hypotonia-seizures-encephalopathy s)
- EBI: Variant of uncertain significance (in NEDRIHF)
- UniProt: Uncertain significance (in NEDRIHF)
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)