Y730C (p.Tyr730Cys) variant of GRIN2A (Q12879)
Y730C (p.Tyr730Cys) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
Y730C (p.Tyr730Cys) variant details
- p.Tyr730Cys
- rs1903138230
- ClinGen CA394797305
- ClinVar RCV001175146
- Ensembl rs1903138230
- Pathogenic
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- AlphaMissense 1.00
- MetaLR 0.18
- MetaSVM -0.85
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.51
- ClinVar: Pathogenic (Landau-Kleffner syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)