I33F (p.Ile33Phe) variant of KIF5A (Kinesin heavy chain isoform 5A)
I33F (p.Ile33Phe) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
I33F (p.Ile33Phe) variant details
- p.Ile33Phe
- rs540463538
- 1000Genomes rs540463538
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.27
- AlphaMissense 0.10
- MetaLR 0.37
- MetaSVM -0.34
- CADD 24.20
- PolyPhen-2 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available