A635T (p.Ala635Thr) variant of GRIN2A (Q12879)
A635T (p.Ala635Thr) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
A635T (p.Ala635Thr) variant details
- p.Ala635Thr
- rs2042449005
- ClinGen CA394799480
- ClinVar RCV001266902
- ClinVar RCV001780221
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- AlphaMissense 1.00
- MetaLR 0.41
- MetaSVM -0.13
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Landau-Kleffner syndrome)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Structural context available
- Cited in: GRIN2A-related disorders: genotype and functional consequence predict phenotype. (PMID 30544257)
- Cited in: De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor. (PMID 38538865)