R33W (p.Arg33Trp) variant of KIF11 (Kinesin-like protein KIF11)
R33W (p.Arg33Trp) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R33W (p.Arg33Trp) variant details
- p.Arg33Trp
- rs773934211
- ClinGen CA5603905
- ClinVar RCV002011231
- ExAC rs773934211
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.64
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available