G620R (p.Gly620Arg) variant of GRIN1 (Q05586)
G620R (p.Gly620Arg) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Inborn genetic diseases; not provided; Neurodevelopmental disorder with or witho. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G620R (p.Gly620Arg) variant details
- p.Gly620Arg
- rs797045047
- Pathogenic
- Inborn genetic diseases; not provided; Neurodevelopmental disorder with or witho
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.91
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Neurodevelopmental disorder with or without hyperkinetic movemen)
- UniProt: Pathogenic (in NDHMSD)
- Population evidence available
- Structural context available
- Cited in: Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. (PMID 27164704)
- Cited in: GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function. (PMID 28228639)