G396V (p.Gly396Val) variant of KCNA1 (Q09470)
G396V (p.Gly396Val) in KCNA1 (Q09470) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Episodic ataxia type 1; Episodic kinesigenic dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
G396V (p.Gly396Val) variant details
- p.Gly396Val
- rs2137673958
- ClinGen CA383456234
- ClinVar RCV001449664
- ClinVar RCV001859333
- Pathogenic/Likely pathogenic
- Episodic ataxia type 1; Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- MutPred 0.76
- ClinVar: Pathogenic/Likely pathogenic (Episodic ataxia type 1; Episodic kinesigenic dyskinesia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)