G31S (p.Gly31Ser) variant of PURA (Q00577)
G31S (p.Gly31Ser) in PURA (Q00577) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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 published literature and structural context.
G31S (p.Gly31Ser) variant details
- p.Gly31Ser
- rs2479503999
- ClinGen CA361489262
- ClinVar RCV002301336
- Likely benign
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- ESM-1b 0.24
- AlphaMissense 0.09
- ClinVar: Likely benign (PURA-related severe neonatal hypotonia-seizures-encephalopathy s)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)