E14G (p.Glu14Gly) variant of KIF11 (Kinesin-like protein KIF11)
E14G (p.Glu14Gly) in KIF11 (Kinesin-like protein KIF11) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E14G (p.Glu14Gly) variant details
- p.Glu14Gly
- TOPMed rs1200677717
- gnomAD rs1200677717
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.34
- CADD 27.50
- PolyPhen-2 0.24
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available