F653V (p.Phe653Val) variant of GRIN2B (Q13224)
F653V (p.Phe653Val) in GRIN2B (Q13224) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in MRD6. The record also includes published literature.
F653V (p.Phe653Val) variant details
- p.Phe653Val
- Uncertain significance
- in MRD6
- Missense
- 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)