N649S (p.Asn649Ser) variant of GRIN2B (Q13224)
N649S (p.Asn649Ser) in GRIN2B (Q13224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; GRIN2B-related complex neurodevelopmental disorder; Developmental. The record also includes variant effect predictions and published literature.
N649S (p.Asn649Ser) variant details
- p.Asn649Ser
- Conflicting interpretations
- not provided; GRIN2B-related complex neurodevelopmental disorder; Developmental
- Missense
- MetaLR 0.48
- MetaSVM 0.14
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; GRIN2B-related complex neurodevelopmental disorder)
- EBI: uncertain significance (in DEE27)
- UniProt: Uncertain significance (in DEE27)
- Cited in: De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor. (PMID 38538865)