A652P (p.Ala652Pro) variant of GRIN2B (Q13224)
A652P (p.Ala652Pro) in GRIN2B (Q13224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The record also includes published literature.
A652P (p.Ala652Pro) variant details
- p.Ala652Pro
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: uncertain significance (in MRD6)
- UniProt: Uncertain significance (in MRD6)
- Cited in: De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor. (PMID 38538865)