R33Q (p.Arg33Gln) variant of KIF11 (Kinesin-like protein KIF11)
R33Q (p.Arg33Gln) in KIF11 (Kinesin-like protein KIF11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R33Q (p.Arg33Gln) variant details
- p.Arg33Gln
- rs1282064424
- ClinGen CA377587715
- ClinVar RCV002696285
- gnomAD rs1282064424
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.35
- CADD 24.30
- PolyPhen-2 0.38
- SIFT 0.01
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available