I206F (p.Ile206Phe) variant of PURA (Q00577)
I206F (p.Ile206Phe) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
I206F (p.Ile206Phe) variant details
- p.Ile206Phe
- rs786204834
- ClinGen CA199216
- ClinVar RCV000169738
- UniProt VAR 073993
- Pathogenic
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.18
- MetaSVM -0.80
- 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: Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay… (PMID 25342064)
- Cited in: Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. (PMID 25439098)