S17L (p.Ser17Leu) variant of PURA (Q00577)
S17L (p.Ser17Leu) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S17L (p.Ser17Leu) variant details
- p.Ser17Leu
- rs1346561117
- ClinGen CA361489107
- ClinVar RCV003821311
- gnomAD rs1346561117
- Likely benign
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Likely benign (PURA-related severe neonatal hypotonia-seizures-encephalopathy s)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 5.6e-05)
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)