R45P (p.Arg45Pro) variant of VIM (Vimentin)
R45P (p.Arg45Pro) in VIM (Vimentin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R45P (p.Arg45Pro) variant details
- p.Arg45Pro
- ExAC rs778098458
- gnomAD rs778098458
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.62
- CADD 27.50
- PolyPhen-2 0.94
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available