R28G (p.Arg28Gly) variant of VIM (Vimentin)
R28G (p.Arg28Gly) in VIM (Vimentin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cataract 30. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R28G (p.Arg28Gly) variant details
- p.Arg28Gly
- rs1194887764
- ClinGen CA376174915
- ClinVar RCV003742422
- Uncertain significance
- Cataract 30
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.28
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (Cataract 30)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.7e-05)
- Structural context available