G30D (p.Gly30Asp) variant of GRIN2A (Q12879)
G30D (p.Gly30Asp) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Landau-Kleffner syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
G30D (p.Gly30Asp) variant details
- p.Gly30Asp
- rs1567354651
- ClinGen CA394715751
- cosmic curated COSV58022
- ClinVar RCV000734427
- Uncertain significance
- Landau-Kleffner syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- AlphaMissense 0.17
- MetaLR 0.04
- MetaSVM -1.15
- PolyPhen-2 0.29
- SIFT 0.06
- MutPred 0.33
- ClinVar: Uncertain significance (Landau-Kleffner syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)