R17W (p.Arg17Trp) variant of KIF5A (Kinesin heavy chain isoform 5A)
R17W (p.Arg17Trp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes structural context.
R17W (p.Arg17Trp) variant details
- p.Arg17Trp
- rs2140150123
- ClinGen CA385495879
- ClinVar RCV001752452
- ClinVar RCV005095013
- Uncertain significance
- Spastic paraplegia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- AlphaMissense 1.00
- MetaLR 0.83
- MetaSVM 0.50
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Uncertain significance (Spastic paraplegia; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available