D227H (p.Asp227His) variant of GRIN1 (Q05586)
D227H (p.Asp227His) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
D227H (p.Asp227His) variant details
- p.Asp227His
- rs869312865
- Likely pathogenic
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.75
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Likely pathogenic (Neurodevelopmental disorder with or without hyperkinetic movemen)
- EBI: uncertain significance (in NDHMSR)
- UniProt: Uncertain significance (in NDHMSR)
- Population evidence available
- Structural context available
- Cited in: Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without… (PMID 28051072)