R306Q (p.Arg306Gln) variant of GRIN1 (Q05586)
R306Q (p.Arg306Gln) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R306Q (p.Arg306Gln) variant details
- p.Arg306Gln
- Uncertain significance
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.34
- CADD 24.20
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (Neurodevelopmental disorder with or without hyperkinetic movemen)
- EBI: uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia. (PMID 22833210)