M653I (p.Met653Ile) variant of GRIN2A (Q12879)
M653I (p.Met653Ile) 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 0.40 / 1. The record also includes published literature and structural context.
M653I (p.Met653Ile) variant details
- p.Met653Ile
- rs2141312277
- ClinGen CA394799250
- ClinVar RCV001532279
- Ensembl rs2141312277
- Likely pathogenic
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- AlphaMissense 1.00
- MetaLR 0.28
- MetaSVM -0.61
- PolyPhen-2 0.93
- SIFT 0.03
- EVE 0.29
- ClinVar: Likely pathogenic (Landau-Kleffner syndrome)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Structural context available
- Cited in: Exome sequencing identifies GRIN2A as frequently mutated in melanoma. (PMID 21499247)
- Cited in: GRIN2A-related disorders: genotype and functional consequence predict phenotype. (PMID 30544257)