A89P (p.Ala89Pro) variant of PURA (Q00577)
A89P (p.Ala89Pro) in PURA (Q00577) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.60 / 1. The record also includes published literature and structural context.
A89P (p.Ala89Pro) variant details
- p.Ala89Pro
- rs587782999
- ClinGen CA249901
- ClinVar RCV000144529
- ClinVar RCV003586143
- Pathogenic
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.29
- MetaSVM -0.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: 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)