E80G (p.Glu80Gly) variant of KIF1A (Kinesin-like protein KIF1A)
E80G (p.Glu80Gly) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
E80G (p.Glu80Gly) variant details
- p.Glu80Gly
- rs2538438133
- ClinGen CA351310740
- ClinVar RCV002293857
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available