M653V (p.Met653Val) variant of GRIN2A (Q12879)
M653V (p.Met653Val) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Landau-Kleffner 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.
M653V (p.Met653Val) variant details
- p.Met653Val
- rs2141312286
- ClinGen CA394799264
- ClinVar RCV001785403
- Ensembl rs2141312286
- Likely pathogenic
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- AlphaMissense 1.00
- MetaLR 0.30
- MetaSVM -0.46
- PolyPhen-2 0.84
- SIFT 0.00
- EVE 0.69
- ClinVar: Likely pathogenic (Landau-Kleffner syndrome)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Structural context available
- Cited in: De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor. (PMID 38538865)
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)