A548P (p.Ala548Pro) variant of GRIN2A (Q12879)
A548P (p.Ala548Pro) 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 0.49 / 1. The record also includes published literature and structural context.
A548P (p.Ala548Pro) variant details
- p.Ala548Pro
- rs1057523843
- ClinGen CA16607161
- ClinVar RCV000441942
- ClinVar RCV001782905
- Likely pathogenic
- Landau-Kleffner syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- AlphaMissense 1.00
- MetaLR 0.31
- MetaSVM -0.43
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (Landau-Kleffner syndrome; not provided)
- EBI: Likely pathogenic (in FESD)
- UniProt: Likely pathogenic (in FESD)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)