A716V (p.Ala716Val) variant of GRIN2A (Q12879)
A716V (p.Ala716Val) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
A716V (p.Ala716Val) variant details
- p.Ala716Val
- rs1057519552
- ClinGen CA394797687
- ClinVar RCV003582808
- Likely pathogenic
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- AlphaMissense 0.68
- MetaLR 0.16
- MetaSVM -0.98
- PolyPhen-2 1.00
- SIFT 0.17
- EVE 0.11
- ClinVar: Likely pathogenic (Landau-Kleffner syndrome)
- EBI: Likely pathogenic (in FESD)
- UniProt: Likely pathogenic (in FESD)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)