K29M (p.Lys29Met) variant of KIF5A (Kinesin heavy chain isoform 5A)
K29M (p.Lys29Met) 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 0.45 / 1. The record also includes structural context.
K29M (p.Lys29Met) variant details
- p.Lys29Met
- rs2140150198
- ClinGen CA385496134
- ClinVar RCV001980485
- Ensembl rs2140150198
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- AlphaMissense 0.27
- MetaLR 0.34
- MetaSVM -0.60
- PolyPhen-2 0.90
- SIFT 0.04
- EVE 0.36
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available