L812M (p.Leu812Met) variant of GRIN2A (Q12879)
L812M (p.Leu812Met) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Landau-Kleffner syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
L812M (p.Leu812Met) variant details
- p.Leu812Met
- rs752241086
- ClinGen CA394710145
- ClinVar RCV001785240
- ClinVar RCV003120687
- Pathogenic/Likely pathogenic
- Landau-Kleffner syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- AlphaMissense 0.97
- MetaLR 0.43
- MetaSVM -0.24
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.36
- ClinVar: Pathogenic/Likely pathogenic (Landau-Kleffner syndrome; not provided)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Structural context available
- Cited in: Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy. (PMID 24504326)
- Cited in: Differential functional consequences of GRIN2A mutations associated with schizophrenia and neurodevelopmental disorders. (PMID 38307912)