R199P (p.Arg199Pro) variant of PURA (Q00577)
R199P (p.Arg199Pro) in PURA (Q00577) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.58 / 1. The record also includes published literature and structural context.
R199P (p.Arg199Pro) variant details
- p.Arg199Pro
- rs587783001
- ClinGen CA249904
- ClinVar RCV000144531
- ClinVar RCV000656234
- Pathogenic/Likely pathogenic
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.26
- MetaSVM -0.53
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (PURA-related severe neonatal hypotonia-seizures-encephalopathy s)
- EBI: Pathogenic (in NEDRIHF)
- UniProt: Pathogenic (in NEDRIHF)
- Structural context available
- Cited in: Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. (PMID 25439098)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)