E58K (p.Glu58Lys) variant of GRIN2A (Q12879)
E58K (p.Glu58Lys) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Landau-Kleffner syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E58K (p.Glu58Lys) variant details
- p.Glu58Lys
- rs143833346
- ClinGen CA7897034
- cosmic curated COSV58044
- ClinVar RCV000424997
- Conflicting interpretations
- Landau-Kleffner syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.54
- CADD 24.00
- PolyPhen-2 0.04
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Landau-Kleffner syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.7e-05)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)