F73V (p.Phe73Val) variant of PURA (Q00577)
F73V (p.Phe73Val) 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 1.00 / 1. The record also includes published literature and structural context.
F73V (p.Phe73Val) variant details
- p.Phe73Val
- rs2479504523
- ClinGen CA361490153
- ClinVar RCV002470184
- Pathogenic
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- 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)