M1I (p.Met1Ile) variant of GRIN2A (Q12879)
M1I (p.Met1Ile) 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 0.27 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs868762895
- ClinGen CA394715919
- ClinVar RCV002249064
- Likely pathogenic
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- MetaLR 0.03
- MetaSVM -1.05
- PolyPhen-2 0.03
- SIFT 0.00
- MutPred 0.99
- ClinVar: Likely pathogenic (Landau-Kleffner syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)