G22E (p.Gly22Glu) variant of PURA (Q00577)
G22E (p.Gly22Glu) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G22E (p.Gly22Glu) variant details
- p.Gly22Glu
- rs2126748571
- ClinGen CA361489156
- ClinVar RCV001915727
- Ensembl rs2126748571
- Uncertain significance
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.24
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (PURA-related severe neonatal hypotonia-seizures-encephalopathy s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.2e-05)
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)