T48P (p.Thr48Pro) variant of VIM (Vimentin)
T48P (p.Thr48Pro) in VIM (Vimentin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
T48P (p.Thr48Pro) variant details
- p.Thr48Pro
- ExAC rs201189169
- gnomAD rs201189169
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.29
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the East Asian population (allele frequency 0.0029)
- Structural context available