N650I (p.Asn650Ile) variant of GRIN1 (Q05586)
N650I (p.Asn650Ile) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
N650I (p.Asn650Ile) variant details
- p.Asn650Ile
- rs1131691590
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- AlphaMissense 1.00
- MetaLR 0.49
- MetaSVM 0.20
- PolyPhen-2 0.73
- SIFT 0.01
- EVE 0.84
- ClinVar: Pathogenic (not provided)
- UniProt: 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)