G34S (p.Gly34Ser) variant of PURA (Q00577)
G34S (p.Gly34Ser) in PURA (Q00577) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G34S (p.Gly34Ser) variant details
- p.Gly34Ser
- rs1763036938
- ClinGen CA361489280
- ClinVar RCV001314027
- ClinVar RCV004692471
- Conflicting interpretations
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.23
- ESM-1b 0.24
- AlphaMissense 0.09
- CADD 23.60
- PolyPhen-2 0.86
- SIFT 0.22
- ClinVar: Conflicting classifications of pathogenicity (PURA-related severe neonatal hypotonia-seizures-encephalopathy s)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:DRUZE population (allele frequency 0.015)
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)