K92T (p.Lys92Thr) variant of KIF5A (Kinesin heavy chain isoform 5A)
K92T (p.Lys92Thr) 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 0.86 / 1. The record also includes structural context.
K92T (p.Lys92Thr) variant details
- p.Lys92Thr
- rs2140158867
- ClinGen CA385493611
- ClinVar RCV002013906
- Ensembl rs2140158867
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available