A638V (p.Ala638Val) variant of GRIN2A (Q12879)
A638V (p.Ala638Val) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Landau-Kleffner syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
A638V (p.Ala638Val) variant details
- p.Ala638Val
- rs1567329011
- ClinGen CA394799428
- ClinVar RCV000679998
- ClinVar RCV005623358
- Conflicting interpretations
- Landau-Kleffner syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- AlphaMissense 1.00
- MetaLR 0.29
- MetaSVM -0.57
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: Conflicting classifications of pathogenicity (Landau-Kleffner syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)