N693K (p.Asn693Lys) variant of GRIN2A (Q12879)
N693K (p.Asn693Lys) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
N693K (p.Asn693Lys) variant details
- p.Asn693Lys
- rs2506094595
- ClinGen CA394797853
- ClinVar RCV003741727
- Pathogenic
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.29
- MetaLR 0.20
- MetaSVM -0.84
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Landau-Kleffner syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)