S28P (p.Ser28Pro) variant of PURA (Q00577)
S28P (p.Ser28Pro) 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; Inborn. 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.
S28P (p.Ser28Pro) variant details
- p.Ser28Pro
- rs1554129019
- ClinGen CA361489238
- ClinVar RCV000623948
- ClinVar RCV002491336
- Uncertain significance
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome; Inborn
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.00
- PolyPhen-2 0.31
- SIFT 0.30
- ClinVar: Uncertain significance (PURA-related severe neonatal hypotonia-seizures-encephalopathy s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)