Q87R (p.Gln87Arg) variant of KIF5A (Kinesin heavy chain isoform 5A)
Q87R (p.Gln87Arg) 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 Spastic paraplegia. The record also includes structural context.
Q87R (p.Gln87Arg) variant details
- p.Gln87Arg
- rs2540493201
- ClinGen CA385493467
- ClinVar RCV002843953
- Uncertain significance
- Spastic paraplegia
- Missense
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available