K144E (p.Lys144Glu) variant of PURA (Q00577)
K144E (p.Lys144Glu) in PURA (Q00577) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
K144E (p.Lys144Glu) variant details
- p.Lys144Glu
- rs1581036396
- ClinGen CA361490746
- ClinVar RCV000824835
- ClinVar RCV001257616
- Likely pathogenic
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.19
- MetaSVM -0.78
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Likely pathogenic (PURA-related severe neonatal hypotonia-seizures-encephalopathy s)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)