V404I (p.Val404Ile) variant of KCNA1 (Q09470)
V404I (p.Val404Ile) in KCNA1 (Q09470) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Episodic ataxia type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
V404I (p.Val404Ile) variant details
- p.Val404Ile
- rs104894355
- ClinGen CA256880
- NCI-TCGA Cosmic COSV6683
- ClinVar RCV000014431
- Pathogenic
- not provided; Episodic ataxia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- MutPred 0.74
- ClinVar: Pathogenic (not provided; Episodic ataxia type 1)
- EBI: Pathogenic (in EA1)
- UniProt: Pathogenic (in EA1)
- Structural context available
- Cited in: Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic… (PMID 11026449)
- Cited in: Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium… (PMID 17156368)