G25S (p.Gly25Ser) variant of PURA (Q00577)
G25S (p.Gly25Ser) in PURA (Q00577) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; PURA-related severe neonatal hypotonia-seizures-encepha. 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.
G25S (p.Gly25Ser) variant details
- p.Gly25Ser
- rs1561792992
- ClinGen CA361489200
- ClinVar RCV002314587
- ClinVar RCV002534552
- Uncertain significance
- Inborn genetic diseases; PURA-related severe neonatal hypotonia-seizures-encepha
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Uncertain significance (Inborn genetic diseases; PURA-related severe neonatal hypotonia-)
- 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)