I40V (p.Ile40Val) variant of KIF11 (Kinesin-like protein KIF11)
I40V (p.Ile40Val) 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 KIF11-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
I40V (p.Ile40Val) variant details
- p.Ile40Val
- rs561133245
- ClinGen CA5603911
- ClinVar RCV003397673
- 1000Genomes rs561133245
- Uncertain significance
- KIF11-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.22
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (KIF11-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available