Q556H (p.Gln556His) variant of GRIN1 (Q05586)
Q556H (p.Gln556His) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Q556H (p.Gln556His) variant details
- p.Gln556His
- rs2131297434
- ClinGen CA375717737
- ClinVar RCV002250030
- Ensembl rs2131297434
- Pathogenic
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.36
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Neurodevelopmental disorder with or without hyperkinetic movemen)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: GRIN1-Related Neurodevelopmental Disorder. (PMID 31219694)