S554R (p.Ser554Arg) variant of GRIN2A (Q12879)
S554R (p.Ser554Arg) 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 0.43 / 1. The record also includes published literature and structural context.
S554R (p.Ser554Arg) variant details
- p.Ser554Arg
- rs1596476657
- ClinGen CA394800131
- ClinVar RCV000851496
- ClinVar RCV001858504
- Pathogenic/Likely pathogenic
- Landau-Kleffner syndrome; Intellectual disability
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- AlphaMissense 1.00
- MetaLR 0.24
- MetaSVM -0.77
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.46
- 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)