D32H (p.Asp32His) variant of KCNA1 (Q09470)
D32H (p.Asp32His) in KCNA1 (Q09470) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Episodic ataxia type 1. The record also includes variant effect predictions, published literature, and structural context.
D32H (p.Asp32His) variant details
- p.Asp32His
- rs1947351128
- ClinGen CA383453783
- ClinVar RCV001753242
- ClinVar RCV005095079
- Uncertain significance
- not provided; Episodic ataxia type 1
- Missense
- MutPred 0.44
- ClinVar: Uncertain significance (not provided; Episodic ataxia type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)