R26W (p.Arg26Trp) variant of KCNA1 (Q09470)
R26W (p.Arg26Trp) in KCNA1 (Q09470) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Episodic ataxia type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R26W (p.Arg26Trp) variant details
- p.Arg26Trp
- rs373645838
- ClinGen CA6399339
- ClinVar RCV000504366
- ClinVar RCV002481619
- Uncertain significance
- not specified; Episodic ataxia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.42
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (not specified; Episodic ataxia type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)