G638A (p.Gly638Ala) variant of GRIN1 (Q05586)
G638A (p.Gly638Ala) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of Neurodevelopmental disorder with or without hyperkinetic movements and seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
G638A (p.Gly638Ala) variant details
- p.Gly638Ala
- rs1393555703
- Pathogenic/Likely pathogenic
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- AlphaMissense 1.00
- MetaLR 0.27
- MetaSVM -0.67
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.84
- ClinVar: Pathogenic/Likely pathogenic (Neurodevelopmental disorder with or without hyperkinetic movemen)
- UniProt: Likely pathogenic (in NDHMSD)
- Structural context available
- Cited in: De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor. (PMID 38538865)