L611Q (p.Leu611Gln) variant of GRIN2A (Q12879)
L611Q (p.Leu611Gln) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
L611Q (p.Leu611Gln) variant details
- p.Leu611Gln
- rs2141312803
- ClinGen CA394799743
- ClinVar RCV001785400
- ClinVar RCV002463032
- Pathogenic/Likely pathogenic
- not provided; Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- AlphaMissense 1.00
- MetaLR 0.35
- MetaSVM -0.31
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.47
- ClinVar: Pathogenic/Likely pathogenic (not provided; Landau-Kleffner syndrome)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Structural context available
- Cited in: GRIN2A-related disorders: genotype and functional consequence predict phenotype. (PMID 30544257)
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)