P24S (p.Pro24Ser) variant of PURA (Q00577)
P24S (p.Pro24Ser) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P24S (p.Pro24Ser) variant details
- p.Pro24Ser
- rs1064795164
- ClinGen CA361489186
- ClinVar RCV001040096
- Ensembl rs1064795164
- Likely benign
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.40
- MetaSVM -0.48
- CADD 18.60
- ClinVar: Likely benign (PURA-related severe neonatal hypotonia-seizures-encephalopathy s)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.3e-06)
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)