G17R (p.Gly17Arg) variant of KCNA1 (Q09470)
G17R (p.Gly17Arg) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G17R (p.Gly17Arg) variant details
- p.Gly17Arg
- rs1324506346
- ClinGen CA383453683
- ClinVar RCV001228030
- TOPMed rs1324506346
- Uncertain significance
- Episodic ataxia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.38
- CADD 23.40
- ClinVar: Uncertain significance (Episodic ataxia type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)