p.Leu44 Thr48del variant of VIM (Vimentin)
p.Leu44 Thr48del in VIM (Vimentin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu44 Thr48del variant details
- gnomAD 10-17229549-GCGCT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 22.50
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available