P405A (p.Pro405Ala) variant of KCNA1 (Q09470)
P405A (p.Pro405Ala) in KCNA1 (Q09470) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Inborn genetic diseases; Episodic ataxia type 1. The record also includes variant effect predictions, published literature, and structural context.
P405A (p.Pro405Ala) variant details
- p.Pro405Ala
- rs1947358808
- ClinGen CA383456282
- ClinVar RCV001266903
- ClinVar RCV002290674
- Likely pathogenic
- Inborn genetic diseases; Episodic ataxia type 1
- Missense
- MutPred 0.70
- ClinVar: Likely pathogenic (Inborn genetic diseases; Episodic ataxia type 1)
- EBI: Likely pathogenic
- UniProt: Likely 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)