L100P (p.Leu100Pro) variant of PURA (Q00577)
L100P (p.Leu100Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
L100P (p.Leu100Pro) variant details
- p.Leu100Pro
- rs587782995
- ClinGen CA174995
- ClinVar RCV000144525
- ClinVar RCV000149573
- Likely pathogenic
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.25
- MetaSVM -0.54
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (PURA-related severe neonatal hypotonia-seizures-encephalopathy s)
- EBI: Pathogenic (in NEDRIHF)
- UniProt: Pathogenic (in NEDRIHF)
- Structural context available
- Cited in: Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. (PMID 25439098)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)