R519G (p.Arg519Gly) variant of GRIN2B (Q13224)
R519G (p.Arg519Gly) 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 0.79 / 1. The record also includes structural context.
R519G (p.Arg519Gly) variant details
- p.Arg519Gly
- rs774592932
- ClinGen CA384051886
- ClinVar RCV001265379
- ExAC rs774592932
- Likely pathogenic
- Complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- AlphaMissense 1.00
- MetaLR 0.67
- MetaSVM 0.62
- PolyPhen-2 1.00
- EVE 0.89
- MutPred 0.90
- ClinVar: Likely pathogenic (Complex neurodevelopmental disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available