G17C (p.Gly17Cys) variant of VIM (Vimentin)
G17C (p.Gly17Cys) in VIM (Vimentin) is a missense change. 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.
G17C (p.Gly17Cys) variant details
- p.Gly17Cys
- ExAC rs747053288
- gnomAD rs747053288
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.70
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available