A645S (p.Ala645Ser) variant of GRIN1 (Q05586)
A645S (p.Ala645Ser) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.40 / 1. The record also includes published literature and structural context.
A645S (p.Ala645Ser) variant details
- p.Ala645Ser
- rs1833621434
- Likely pathogenic
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- AlphaMissense 0.89
- MetaLR 0.19
- MetaSVM -0.87
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.41
- ClinVar: Likely pathogenic (Neurodevelopmental disorder with or without hyperkinetic movemen)
- EBI: uncertain significance (in NDHMSD)
- UniProt: Uncertain significance (in NDHMSD)
- Structural context available
- Cited in: Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. (PMID 27164704)