Q20K (p.Gln20Lys) variant of KCNA1 (Q09470)
Q20K (p.Gln20Lys) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
Q20K (p.Gln20Lys) variant details
- p.Gln20Lys
- rs2497351299
- ClinGen CA383453701
- ClinVar RCV003845524
- Uncertain significance
- Episodic ataxia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.41
- CADD 19.80
- PolyPhen-2 0.07
- SIFT 0.23
- ClinVar: Uncertain significance (Episodic ataxia type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)