E28A (p.Glu28Ala) variant of GRIN2A (Q12879)
E28A (p.Glu28Ala) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
E28A (p.Glu28Ala) variant details
- p.Glu28Ala
- rs146839931
- ClinGen CA7897046
- ClinVar RCV000274951
- ESP rs146839931
- Likely benign
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.03
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.35
- ClinVar: Likely benign (Landau-Kleffner syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0019)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)