I82V (p.Ile82Val) variant of KIF5A (Kinesin heavy chain isoform 5A)
I82V (p.Ile82Val) 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 0.11 / 1. The record also includes population frequency data and structural context.
I82V (p.Ile82Val) variant details
- p.Ile82Val
- rs2540493184
- ClinGen CA385493353
- ClinVar RCV003752511
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- CADD 3.82
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available