E7K (p.Glu7Lys) variant of KCNA1 (Q09470)
E7K (p.Glu7Lys) 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; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
E7K (p.Glu7Lys) variant details
- p.Glu7Lys
- rs529968149
- ClinGen CA6399328
- ClinVar RCV001113419
- ClinVar RCV004800697
- Uncertain significance
- Episodic ataxia type 1; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.42
- CADD 25.00
- PolyPhen-2 0.10
- SIFT 0.01
- ClinVar: Uncertain significance (Episodic ataxia type 1; not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- 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)