M1T (p.Met1Thr) variant of GRIN2A (Q12879)
M1T (p.Met1Thr) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Landau-Kleffner syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs397518466
- ClinGen CA145312
- ClinVar RCV000074387
- ClinVar RCV004721258
- Pathogenic/Likely pathogenic
- Landau-Kleffner syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- MetaLR 0.04
- MetaSVM -1.12
- PolyPhen-2 0.21
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic/Likely pathogenic (Landau-Kleffner syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: GRIN2A mutations cause epilepsy-aphasia spectrum disorders. (PMID 23933818)
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)