Q51L (p.Gln51Leu) variant of KCNA1 (Q09470)
Q51L (p.Gln51Leu) in KCNA1 (Q09470) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Episodic ataxia type 1. The record also includes published literature and structural context.
Q51L (p.Gln51Leu) variant details
- p.Gln51Leu
- rs2497351549
- ClinGen CA383453914
- ClinVar RCV003515751
- Uncertain significance
- Episodic ataxia type 1
- Missense
- ClinVar: Uncertain significance (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)