R53Q (p.Arg53Gln) variant of KIF11 (Kinesin-like protein KIF11)
R53Q (p.Arg53Gln) in KIF11 (Kinesin-like protein KIF11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R53Q (p.Arg53Gln) variant details
- p.Arg53Gln
- gnomAD rs1426194232
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.33
- CADD 27.80
- PolyPhen-2 0.63
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available