D776Y (p.Asp776Tyr) variant of GRIN2A (Q12879)
D776Y (p.Asp776Tyr) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
D776Y (p.Asp776Tyr) variant details
- p.Asp776Tyr
- rs776791010
- ClinGen CA394796998
- NCI-TCGA Cosmic COSV5801
- cosmic curated COSV58019
- Pathogenic/Likely pathogenic
- not provided; Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- AlphaMissense 1.00
- MetaLR 0.35
- MetaSVM -0.38
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic/Likely pathogenic (not provided; Landau-Kleffner syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)