Y647H (p.Tyr647His) variant of GRIN1 (Q05586)
Y647H (p.Tyr647His) 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 0.73 / 1. The record also includes published literature and structural context.
Y647H (p.Tyr647His) variant details
- p.Tyr647His
- rs1833621750
- ClinGen CA375720802
- ClinVar RCV001175149
- Ensembl rs1833621750
- Likely pathogenic
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- AlphaMissense 1.00
- MetaLR 0.66
- MetaSVM 0.32
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Likely pathogenic (Neurodevelopmental disorder with or without hyperkinetic movemen)
- EBI: Likely pathogenic (in NDHMSD)
- UniProt: Likely pathogenic (in NDHMSD)
- Structural context available
- Cited in: GRIN1-Related Neurodevelopmental Disorder. (PMID 31219694)