I188T (p.Ile188Thr) variant of PURA (Q00577)
I188T (p.Ile188Thr) in PURA (Q00577) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.61 / 1. The record also includes published literature and structural context.
I188T (p.Ile188Thr) variant details
- p.Ile188Thr
- rs793888527
- ClinGen CA090963
- ClinVar RCV000201221
- ClinVar RCV000622637
- Pathogenic/Likely pathogenic
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome; Inborn
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.31
- MetaSVM -0.29
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (PURA-related severe neonatal hypotonia-seizures-encephalopathy s)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: De novo mutations in PURA are associated with hypotonia and developmental delay. (PMID 27148565)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)