P260R (p.Pro260Arg) variant of PURA (Q00577)
P260R (p.Pro260Arg) 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 0.64 / 1. The record also includes published literature and structural context.
P260R (p.Pro260Arg) variant details
- p.Pro260Arg
- rs1064795567
- ClinGen CA361491523
- ClinVar RCV001030997
- Ensembl rs1064795567
- Likely pathogenic
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.41
- MetaSVM -0.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (PURA-related severe neonatal hypotonia-seizures-encephalopathy s)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)