M1L (p.Met1Leu) variant of PURA (Q00577)
M1L (p.Met1Leu) 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 0.49 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs793888530
- ClinGen CA090959
- ClinVar RCV001380050
- Pathogenic
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- ESM-1b 1.00
- AlphaMissense 0.39
- MetaLR 0.09
- MetaSVM -0.98
- PolyPhen-2 0.14
- SIFT 0.00
- 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)