I40M (p.Ile40Met) variant of KIF11 (Kinesin-like protein KIF11)
I40M (p.Ile40Met) in KIF11 (Kinesin-like protein KIF11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
I40M (p.Ile40Met) variant details
- p.Ile40Met
- rs1844430333
- ClinGen CA377587762
- ClinVar RCV001067415
- TOPMed rs1844430333
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.43
- CADD 20.30
- PolyPhen-2 0.60
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available