G820E (p.Gly820Glu) variant of GRIN2B (Q13224)
G820E (p.Gly820Glu) in GRIN2B (Q13224) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of Developmental and epileptic encephalopathy, 27; Intellectual disability, autosom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature.
G820E (p.Gly820Glu) variant details
- p.Gly820Glu
- rs797044849
- Pathogenic/Likely pathogenic
- Developmental and epileptic encephalopathy, 27; Intellectual disability, autosom
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- AlphaMissense 0.99
- MetaLR 0.38
- MetaSVM -0.14
- PolyPhen-2 1.00
- EVE 0.90
- MutPred 0.85
- ClinVar: Pathogenic/Likely pathogenic (Developmental and epileptic encephalopathy, 27; Intellectual dis)
- UniProt: Likely pathogenic (in MRD6)
- Cited in: De novo mutations in moderate or severe intellectual disability. (PMID 25356899)