G165S (p.Gly165Ser) variant of PURA (Q00577)
G165S (p.Gly165Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
G165S (p.Gly165Ser) variant details
- p.Gly165Ser
- rs1561793272
- ClinGen CA361490897
- ClinVar RCV000704255
- Ensembl rs1561793272
- Pathogenic/Likely pathogenic
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.47
- MetaSVM 0.11
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/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)