S8W (p.Ser8Trp) variant of VIM (Vimentin)
S8W (p.Ser8Trp) 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 0.47 / 1. The record also includes population frequency data and structural context.
S8W (p.Ser8Trp) variant details
- p.Ser8Trp
- ExAC rs779204525
- gnomAD rs779204525
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.48
- CADD 26.40
- PolyPhen-2 0.79
- 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