S20P (p.Ser20Pro) variant of PURA (Q00577)
S20P (p.Ser20Pro) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S20P (p.Ser20Pro) variant details
- p.Ser20Pro
- rs1763035593
- ClinGen CA361489126
- ClinVar RCV001212518
- Ensembl rs1763035593
- Likely benign
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 21.90
- PolyPhen-2 0.02
- SIFT 0.26
- ClinVar: Likely benign (PURA-related severe neonatal hypotonia-seizures-encephalopathy s)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)