I42V (p.Ile42Val) variant of KIF5A (Kinesin heavy chain isoform 5A)
I42V (p.Ile42Val) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
I42V (p.Ile42Val) variant details
- p.Ile42Val
- rs1207026111
- ClinGen CA385496419
- ClinVar RCV003881170
- TOPMed rs1207026111
- Likely benign
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.08
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.50
- ClinVar: Likely benign (Spastic paraplegia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available