S1459G (p.Ser1459Gly) variant of GRIN2A (Q12879)
S1459G (p.Ser1459Gly) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A m. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
S1459G (p.Ser1459Gly) variant details
- p.Ser1459Gly
- rs869312681
- ClinGen CA354186
- ClinVar RCV000209878
- ClinVar RCV004017490
- Pathogenic/Likely pathogenic
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A m
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- AlphaMissense 0.51
- MetaLR 0.18
- MetaSVM -0.80
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.63
- ClinVar: Pathogenic/Likely pathogenic (Early-onset epileptic encephalopathy and intellectual disability)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)