G12C (p.Gly12Cys) variant of PURA (Q00577)
G12C (p.Gly12Cys) 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; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
G12C (p.Gly12Cys) variant details
- p.Gly12Cys
- rs2126748529
- ClinGen CA361489080
- ClinVar RCV001774674
- ClinVar RCV002540603
- Uncertain significance
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.46
- ESM-1b 0.74
- AlphaMissense 0.27
- CADD 23.50
- PolyPhen-2 0.06
- SIFT 0.01
- 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)