T690K (p.Thr690Lys) variant of GRIN2A (Q12879)
T690K (p.Thr690Lys) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Landau-Kleffner syndrome; Intellectual disability. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
T690K (p.Thr690Lys) variant details
- p.Thr690Lys
- rs1445802934
- ClinGen CA394797878
- ClinVar RCV001260638
- ClinVar RCV002274166
- Pathogenic/Likely pathogenic
- Landau-Kleffner syndrome; Intellectual disability
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- AlphaMissense 1.00
- MetaLR 0.27
- MetaSVM -0.46
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (Landau-Kleffner syndrome; Intellectual disability)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)