L15M (p.Leu15Met) variant of PURA (Q00577)
L15M (p.Leu15Met) in PURA (Q00577) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L15M (p.Leu15Met) variant details
- p.Leu15Met
- rs923665124
- ClinGen CA361489093
- ClinVar RCV000685099
- TOPMed rs923665124
- Uncertain significance
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (PURA-related severe neonatal hypotonia-seizures-encephalopathy s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)