G16R (p.Gly16Arg) variant of VIM (Vimentin)
G16R (p.Gly16Arg) 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 0.74 / 1. The record also includes population frequency data and structural context.
G16R (p.Gly16Arg) variant details
- p.Gly16Arg
- ExAC rs773471865
- gnomAD rs773471865
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.86
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available