A818V (p.Ala818Val) variant of GRIN2A (Q12879)
A818V (p.Ala818Val) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A818V (p.Ala818Val) variant details
- p.Ala818Val
- rs751455326
- ClinGen CA7896509
- NCI-TCGA Cosmic COSV5806
- cosmic curated COSV58061
- Pathogenic/Likely pathogenic
- Landau-Kleffner syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.46
- AlphaMissense 0.99
- MetaLR 0.31
- MetaSVM -0.43
- CADD 29.50
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Landau-Kleffner syndrome; not provided)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)