S26L (p.Ser26Leu) variant of PURA (Q00577)
S26L (p.Ser26Leu) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S26L (p.Ser26Leu) variant details
- p.Ser26Leu
- rs1763036339
- ClinGen CA361489222
- ClinVar RCV001907045
- Ensembl rs1763036339
- Uncertain significance
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (PURA-related severe neonatal hypotonia-seizures-encephalopathy s)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.2e-06)
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)