E1211K (p.Glu1211Lys) variant of SCN2A (Nav1.2)
E1211K (p.Glu1211Lys) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Episodic ataxia, type 9; Seizures, benign familial infantile, 3; Developmental a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
E1211K (p.Glu1211Lys) variant details
- p.Glu1211Lys
- rs387906684
- ClinGen CA128708
- NCI-TCGA Cosmic COSV9933
- cosmic curated COSV99330
- Pathogenic/Likely pathogenic
- Episodic ataxia, type 9; Seizures, benign familial infantile, 3; Developmental a
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.92
- MetaSVM 1.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Episodic ataxia, type 9; Seizures, benign familial infantile, 3;)
- EBI: Pathogenic (in DEE11)
- UniProt: Pathogenic (in DEE11)
- Structural context available
- Cited in: De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. (PMID 19786696)
- Cited in: SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet. (PMID 25459969)