R695Q (p.Arg695Gln) variant of GRIN2A (Q12879)
R695Q (p.Arg695Gln) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Neurodevelopmental disorder; Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R695Q (p.Arg695Gln) variant details
- p.Arg695Gln
- rs1555491654
- ClinGen CA315009
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10041
- Pathogenic/Likely pathogenic
- Neurodevelopmental disorder; Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.32
- MetaLR 0.17
- MetaSVM -0.98
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Neurodevelopmental disorder; Landau-Kleffner syndrome)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Population evidence available
- Structural context available
- Cited in: GRIN2A-related disorders: genotype and functional consequence predict phenotype. (PMID 30544257)
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)