G27R (p.Gly27Arg) variant of PURA (Q00577)
G27R (p.Gly27Arg) 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 spe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G27R (p.Gly27Arg) variant details
- p.Gly27Arg
- rs1470806491
- ClinGen CA361489225
- ClinVar RCV001867801
- ClinVar RCV004782806
- Uncertain significance
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome; not spe
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.34
- ESM-1b 1.00
- AlphaMissense 0.38
- CADD 24.30
- PolyPhen-2 0.95
- SIFT 0.10
- ClinVar: Uncertain significance (PURA-related severe neonatal hypotonia-seizures-encephalopathy s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)