T48I (p.Thr48Ile) variant of VIM (Vimentin)
T48I (p.Thr48Ile) in VIM (Vimentin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
T48I (p.Thr48Ile) variant details
- p.Thr48Ile
- ExAC rs745851443
- TOPMed rs745851443
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.12
- CADD 19.20
- PolyPhen-2 0.09
- SIFT 0.43
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available