H38Y (p.His38Tyr) variant of KIF11 (Kinesin-like protein KIF11)
H38Y (p.His38Tyr) in KIF11 (Kinesin-like protein KIF11) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
H38Y (p.His38Tyr) variant details
- p.His38Tyr
- TOPMed rs1844430207
- gnomAD rs1844430207
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.23
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.79
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available