E58D (p.Glu58Asp) variant of GRIN2A (Q12879)
E58D (p.Glu58Asp) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E58D (p.Glu58Asp) variant details
- p.Glu58Asp
- rs1432050454
- ClinGen CA394715577
- ClinVar RCV002085148
- TOPMed rs1432050454
- Likely benign
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.13
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Likely benign (Landau-Kleffner syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)