K72R (p.Lys72Arg) variant of KIF5A (Kinesin heavy chain isoform 5A)
K72R (p.Lys72Arg) 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.
K72R (p.Lys72Arg) variant details
- p.Lys72Arg
- rs2540492989
- ClinGen CA385492974
- ClinVar RCV003590500
- Uncertain significance
- Spastic paraplegia
- Missense
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available