M818L (p.Met818Leu) variant of GRIN1 (Q05586)
M818L (p.Met818Leu) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Neurodevelopmental disorder with or without hyperkinetic movements and seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes published literature and structural context.
M818L (p.Met818Leu) variant details
- p.Met818Leu
- rs1554770628
- ClinGen CA375726216
- ClinVar RCV000532186
- Ensembl rs1554770628
- Pathogenic/Likely pathogenic
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- AlphaMissense 0.20
- MetaLR 0.05
- MetaSVM -1.08
- PolyPhen-2 0.02
- SIFT 0.14
- EVE 0.11
- ClinVar: Pathogenic/Likely pathogenic (Neurodevelopmental disorder with or without hyperkinetic movemen)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: GRIN1-Related Neurodevelopmental Disorder. (PMID 31219694)