E662K (p.Glu662Lys) variant of GRIN1 (Q05586)
E662K (p.Glu662Lys) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar 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 0.29 / 1. The record also includes published literature and structural context.
E662K (p.Glu662Lys) variant details
- p.Glu662Lys
- rs387906635
- Pathogenic
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- AlphaMissense 0.94
- MetaLR 0.09
- MetaSVM -1.08
- PolyPhen-2 1.00
- SIFT 0.34
- EVE 0.11
- ClinVar: Pathogenic (Neurodevelopmental disorder with or without hyperkinetic movemen)
- UniProt: Pathogenic (in NDHMSD)
- Structural context available
- Cited in: Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual… (PMID 21376300)