E49Q (p.Glu49Gln) variant of KCNA1 (Q09470)
E49Q (p.Glu49Gln) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
E49Q (p.Glu49Gln) variant details
- p.Glu49Gln
- rs1384353122
- ClinGen CA383453896
- ClinVar RCV002035758
- ClinVar RCV004598172
- Uncertain significance
- not provided; Episodic ataxia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.68
- CADD 28.90
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Episodic ataxia type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-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)