M1I (p.Met1Ile) variant of PURA (Q00577)
M1I (p.Met1Ile) 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 0.95 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2479503494
- ClinGen CA361488935
- ClinVar RCV003030865
- Pathogenic
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- ESM-1b 1.00
- AlphaMissense 0.89
- ClinVar: Pathogenic (PURA-related severe neonatal hypotonia-seizures-encephalopathy s)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)