N615I (p.Asn615Ile) variant of GRIN2B (Q13224)
N615I (p.Asn615Ile) 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 0.54 / 1. The record also includes published literature.
N615I (p.Asn615Ile) variant details
- p.Asn615Ile
- rs672601377
- Pathogenic/Likely pathogenic
- Developmental and epileptic encephalopathy, 27; Intellectual disability, autosom
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- AlphaMissense 1.00
- MetaLR 0.36
- MetaSVM -0.25
- PolyPhen-2 1.00
- EVE 0.83
- MutPred 0.77
- ClinVar: Pathogenic/Likely pathogenic (Developmental and epileptic encephalopathy, 27; Intellectual dis)
- UniProt: Likely pathogenic (in DEE27)
- Cited in: GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. (PMID 24272827)