P405L (p.Pro405Leu) variant of KCNA1 (Q09470)
P405L (p.Pro405Leu) 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 0.72 / 1. The record also includes published literature and structural context.
P405L (p.Pro405Leu) variant details
- p.Pro405Leu
- rs1555085798
- ClinGen CA383456286
- ClinVar RCV000516981
- ClinVar RCV001857907
- Pathogenic
- not provided; Episodic ataxia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- MutPred 0.72
- ClinVar: Pathogenic (not provided; Episodic ataxia type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative… (PMID 27864847)
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)