V62L (p.Val62Leu) variant of KIF5A (Kinesin heavy chain isoform 5A)
V62L (p.Val62Leu) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
V62L (p.Val62Leu) variant details
- p.Val62Leu
- rs2140158758
- ClinGen CA385492644
- ClinVar RCV001987532
- Ensembl rs2140158758
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.65
- CADD 26.00
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available