G37C (p.Gly37Cys) variant of PURA (Q00577)
G37C (p.Gly37Cys) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G37C (p.Gly37Cys) variant details
- p.Gly37Cys
- rs1763037641
- ClinGen CA361489320
- ClinVar RCV001305049
- Ensembl rs1763037641
- Uncertain significance
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.16
- CADD 23.40
- PolyPhen-2 0.10
- SIFT 0.04
- ClinVar: Uncertain significance (PURA-related severe neonatal hypotonia-seizures-encephalopathy s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)