E65K (p.Glu65Lys) variant of SETX (Helicase senataxin)
E65K (p.Glu65Lys) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease. 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.
E65K (p.Glu65Lys) variant details
- p.Glu65Lys
- rs1554825315
- ClinGen CA375351730
- ClinVar RCV000790206
- ClinVar RCV002298772
- Uncertain significance
- Charcot-Marie-Tooth disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.68
- CADD 26.30
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)