G19S (p.Gly19Ser) variant of PURA (Q00577)
G19S (p.Gly19Ser) in PURA (Q00577) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G19S (p.Gly19Ser) variant details
- p.Gly19Ser
- rs2126748559
- ClinGen CA361489115
- ClinVar RCV001887076
- Ensembl rs2126748559
- Uncertain significance
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 20.80
- PolyPhen-2 0.04
- SIFT 0.09
- ClinVar: Uncertain significance (PURA-related severe neonatal hypotonia-seizures-encephalopathy s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)