A67P (p.Ala67Pro) variant of KIF5A (Kinesin heavy chain isoform 5A)
A67P (p.Ala67Pro) 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.
A67P (p.Ala67Pro) variant details
- p.Ala67Pro
- rs2540492980
- ClinGen CA385492793
- ClinVar RCV003590582
- Uncertain significance
- Spastic paraplegia
- Missense
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available