G760S (p.Gly760Ser) variant of GRIN2A (Q12879)
G760S (p.Gly760Ser) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Landau-Kleffner syndrome; not provided; See cases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
G760S (p.Gly760Ser) variant details
- p.Gly760Ser
- rs1555488119
- ClinGen CA394797109
- NCI-TCGA Cosmic COSV5803
- cosmic curated COSV58030
- Pathogenic/Likely pathogenic
- Landau-Kleffner syndrome; not provided; See cases
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- AlphaMissense 0.99
- MetaLR 0.39
- MetaSVM -0.19
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.57
- ClinVar: Pathogenic/Likely pathogenic (Landau-Kleffner syndrome; not provided; See cases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)