I33V (p.Ile33Val) variant of KIF5A (Kinesin heavy chain isoform 5A)
I33V (p.Ile33Val) 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.
I33V (p.Ile33Val) variant details
- p.Ile33Val
- rs540463538
- ClinGen CA385496245
- ClinVar RCV003751135
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- AlphaMissense 0.10
- MetaLR 0.37
- MetaSVM -0.34
- PolyPhen-2 0.17
- SIFT 0.02
- EVE 0.13
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available