A26S (p.Ala26Ser) variant of GRIN2A (Q12879)
A26S (p.Ala26Ser) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A26S (p.Ala26Ser) variant details
- p.Ala26Ser
- rs751198815
- ClinGen CA314929
- ClinVar RCV000187633
- ClinVar RCV000545221
- Likely benign
- Landau-Kleffner syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.02
- CADD 20.10
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Likely benign (Landau-Kleffner syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)