I643V (p.Ile643Val) variant of GRIN1 (Q05586)
I643V (p.Ile643Val) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar, EBI, 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 0.35 / 1. The record also includes published literature and structural context.
I643V (p.Ile643Val) variant details
- p.Ile643Val
- rs1554770243
- Pathogenic/Likely pathogenic
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- AlphaMissense 0.31
- MetaLR 0.19
- MetaSVM -0.74
- PolyPhen-2 0.88
- SIFT 0.06
- EVE 0.16
- ClinVar: Pathogenic/Likely pathogenic (Neurodevelopmental disorder with or without hyperkinetic movemen)
- EBI: uncertain significance (in NDHMSD)
- UniProt: Uncertain significance (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)