A26V (p.Ala26Val) variant of GRIN2A (Q12879)
A26V (p.Ala26Val) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Landau-Kleffner syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- rs765986049
- ClinGen CA7897050
- NCI-TCGA Cosmic COSV5805
- cosmic curated COSV58053
- Conflicting interpretations
- not specified; Landau-Kleffner syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.05
- CADD 21.20
- PolyPhen-2 0.02
- SIFT 0.53
- ClinVar: Conflicting classifications of pathogenicity (not specified; Landau-Kleffner syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00052)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)