F652V (p.Phe652Val) variant of GRIN2A (Q12879)
F652V (p.Phe652Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
F652V (p.Phe652Val) variant details
- p.Phe652Val
- rs397518471
- ClinGen CA145319
- ClinVar RCV000074392
- UniProt VAR 070359
- Likely pathogenic
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- AlphaMissense 1.00
- MetaLR 0.34
- MetaSVM -0.36
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.34
- ClinVar: Likely pathogenic (Landau-Kleffner syndrome)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Structural context available
- Cited in: GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech… (PMID 23933820)
- Cited in: Complex functional phenotypes of NMDA receptor disease variants. (PMID 36117210)