S511L (p.Ser511Leu) variant of GRIN2A (Q12879)
S511L (p.Ser511Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
S511L (p.Ser511Leu) variant details
- p.Ser511Leu
- rs267604688
- ClinGen CA278181465
- NCI-TCGA Cosmic COSV5803
- cosmic curated COSV58032
- Pathogenic/Likely pathogenic
- Landau-Kleffner syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- AlphaMissense 1.00
- MetaLR 0.39
- MetaSVM -0.12
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic/Likely pathogenic (Landau-Kleffner syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)