Q87E (p.Gln87Glu) variant of KIF5A (Kinesin heavy chain isoform 5A)
Q87E (p.Gln87Glu) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spastic paraplegia 10. The record also includes structural context.
Q87E (p.Gln87Glu) variant details
- p.Gln87Glu
- rs2540493198
- ClinGen CA385493459
- ClinVar RCV002290229
- Uncertain significance
- Hereditary spastic paraplegia 10
- Missense
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available