P552R (p.Pro552Arg) variant of GRIN2A (Q12879)
P552R (p.Pro552Arg) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; Landau-Kleffner syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
P552R (p.Pro552Arg) variant details
- p.Pro552Arg
- rs397518450
- ClinGen CA130442
- ClinVar RCV000032867
- ClinVar RCV001091973
- Pathogenic
- Inborn genetic diseases; Landau-Kleffner syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- AlphaMissense 1.00
- MetaLR 0.44
- MetaSVM 0.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (Inborn genetic diseases; Landau-Kleffner syndrome; not provided)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Structural context available
- Cited in: Identification of a genetic cluster influencing memory performance and hippocampal activity in humans. (PMID 16537520)
- Cited in: Diagnostic exome sequencing in persons with severe intellectual disability. (PMID 23033978)