T226R (p.Thr226Arg) variant of KCNA1 (Q09470)
T226R (p.Thr226Arg) 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 0.81 / 1. The record also includes published literature and structural context.
T226R (p.Thr226Arg) variant details
- p.Thr226Arg
- rs28933383
- ClinGen CA341290
- NCI-TCGA Cosmic COSV6683
- ClinVar RCV000014436
- Pathogenic
- not provided; Episodic ataxia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- MutPred 0.81
- ClinVar: Pathogenic (not provided; Episodic ataxia type 1)
- EBI: Pathogenic (in EA1)
- UniProt: Pathogenic (in EA1)
- Structural context available
- Cited in: A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and… (PMID 10355668)
- Cited in: Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1--a challenging problem. (PMID 11013453)