Q35K (p.Gln35Lys) variant of KIF5A (Kinesin heavy chain isoform 5A)
Q35K (p.Gln35Lys) 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 0.33 / 1. The record also includes structural context.
Q35K (p.Gln35Lys) variant details
- p.Gln35Lys
- rs2140150213
- ClinGen CA385496288
- ClinVar RCV001942646
- Ensembl rs2140150213
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- AlphaMissense 0.08
- MetaLR 0.17
- MetaSVM -0.91
- PolyPhen-2 0.00
- SIFT 0.73
- EVE 0.14
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available