M817V (p.Met817Val) variant of GRIN2A (Q12879)
M817V (p.Met817Val) 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 0.34 / 1. The record also includes published literature and structural context.
M817V (p.Met817Val) variant details
- p.Met817Val
- rs796052551
- ClinGen CA314951
- cosmic curated COSV58042
- ClinVar RCV000187645
- Pathogenic/Likely pathogenic
- Landau-Kleffner syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- AlphaMissense 0.97
- MetaLR 0.17
- MetaSVM -0.91
- PolyPhen-2 0.84
- SIFT 0.00
- EVE 0.23
- ClinVar: Pathogenic/Likely pathogenic (Landau-Kleffner syndrome; not provided)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Structural context available
- Cited in: Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a… (PMID 24903190)
- Cited in: Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and… (PMID 28126851)