G499E (p.Gly499Glu) variant of GRIN2B (Q13224)
G499E (p.Gly499Glu) in GRIN2B (Q13224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Complex neurodevelopmental disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
G499E (p.Gly499Glu) variant details
- p.Gly499Glu
- rs1949425904
- ClinGen CA384052033
- ClinVar RCV001265243
- Ensembl rs1949425904
- Likely pathogenic
- Complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- AlphaMissense 1.00
- MetaLR 0.24
- MetaSVM -0.60
- PolyPhen-2 1.00
- EVE 0.79
- MutPred 0.81
- ClinVar: Likely pathogenic (Complex neurodevelopmental disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available