P552Q (p.Pro552Gln) variant of GRIN2A (Q12879)
P552Q (p.Pro552Gln) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 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.
P552Q (p.Pro552Gln) variant details
- p.Pro552Gln
- rs397518450
- ClinGen CA394800148
- cosmic curated COSV10967
- ClinVar RCV001091974
- Likely pathogenic
- 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: Likely pathogenic (Landau-Kleffner syndrome; not provided)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)