A2K (p.Ala2Lys) variant of KIF5A (Kinesin heavy chain isoform 5A)
A2K (p.Ala2Lys) 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.
A2K (p.Ala2Lys) variant details
- p.Ala2Lys
- rs2140150082
- ClinGen CA2573148846
- ClinVar RCV001934378
- Ensembl rs2140150082
- Uncertain significance
- Spastic paraplegia
- Missense
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available