I10V (p.Ile10Val) variant of KIF5A (Kinesin heavy chain isoform 5A)
I10V (p.Ile10Val) 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 0.37 / 1. The record also includes structural context.
I10V (p.Ile10Val) variant details
- p.Ile10Val
- rs2140150109
- ClinGen CA385495731
- ClinVar RCV001914358
- Ensembl rs2140150109
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- AlphaMissense 0.19
- MetaLR 0.36
- MetaSVM -0.57
- PolyPhen-2 0.05
- SIFT 0.11
- EVE 0.13
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available