L13V (p.Leu13Val) variant of KIF5A (Kinesin heavy chain isoform 5A)
L13V (p.Leu13Val) 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.
L13V (p.Leu13Val) variant details
- p.Leu13Val
- rs2540481365
- ClinGen CA385495790
- ClinVar RCV002961910
- Uncertain significance
- Spastic paraplegia
- Missense
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available