C8R (p.Cys8Arg) variant of KIF5A (Kinesin heavy chain isoform 5A)
C8R (p.Cys8Arg) 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 0.43 / 1. The record also includes structural context.
C8R (p.Cys8Arg) variant details
- p.Cys8Arg
- rs1881529054
- ClinGen CA385495695
- ClinVar RCV002304119
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- AlphaMissense 0.33
- MetaLR 0.21
- MetaSVM -0.44
- PolyPhen-2 0.86
- SIFT 0.28
- EVE 0.52
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available