F231C (p.Phe231Cys) variant of PURA (Q00577)
F231C (p.Phe231Cys) 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 disorder; not provided; PURA-related severe neonatal hypotonia-seiz. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
F231C (p.Phe231Cys) variant details
- p.Phe231Cys
- rs1554129113
- ClinGen CA361491325
- ClinVar RCV001822054
- ClinVar RCV002542489
- Pathogenic/Likely pathogenic
- PURA-related disorder; not provided; PURA-related severe neonatal hypotonia-seiz
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.35
- MetaSVM -0.21
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (PURA-related disorder; not provided; PURA-related severe neonata)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)