R171P (p.Arg171Pro) variant of PURA (Q00577)
R171P (p.Arg171Pro) in PURA (Q00577) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.50 / 1. The record also includes published literature and structural context.
R171P (p.Arg171Pro) variant details
- p.Arg171Pro
- rs2126749179
- ClinGen CA361490938
- ClinVar RCV002250282
- Ensembl rs2126749179
- Pathogenic
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.23
- MetaSVM -0.73
- PolyPhen-2 1.00
- SIFT 0.07
- ClinVar: Pathogenic (PURA-related severe neonatal hypotonia-seizures-encephalopathy s)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)