V4A (p.Val4Ala) variant of GRIN2A (Q12879)
V4A (p.Val4Ala) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
V4A (p.Val4Ala) variant details
- p.Val4Ala
- rs1596587600
- ClinGen CA394715900
- cosmic curated COSV58054
- ClinVar RCV000795964
- Uncertain significance
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- AlphaMissense 0.07
- MetaLR 0.02
- MetaSVM -1.00
- PolyPhen-2 0.00
- SIFT 0.56
- MutPred 0.26
- ClinVar: Uncertain significance (Landau-Kleffner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)