C14Y (p.Cys14Tyr) variant of KIF5A (Kinesin heavy chain isoform 5A)
C14Y (p.Cys14Tyr) 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 0.69 / 1. The record also includes structural context.
C14Y (p.Cys14Tyr) variant details
- p.Cys14Tyr
- rs2140150117
- ClinGen CA385495809
- ClinVar RCV003752300
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- AlphaMissense 0.99
- MetaLR 0.65
- MetaSVM 0.43
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available