G815W (p.Gly815Trp) variant of GRIN1 (Q05586)
G815W (p.Gly815Trp) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Neurodevelopmental disorder with or without hyperkinetic movements. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
G815W (p.Gly815Trp) variant details
- p.Gly815Trp
- rs797044925
- ClinGen CA375726029
- ClinVar RCV001547452
- ClinVar RCV002032570
- Conflicting interpretations
- not provided; Neurodevelopmental disorder with or without hyperkinetic movements
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- AlphaMissense 1.00
- MetaLR 0.54
- MetaSVM 0.34
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.93
- ClinVar: Conflicting classifications of pathogenicity (not provided; Neurodevelopmental disorder with or without hyperk)
- EBI: Pathogenic (in NDHMSD)
- UniProt: Pathogenic (in NDHMSD)
- Structural context available
- Cited in: GRIN1-Related Neurodevelopmental Disorder. (PMID 31219694)