S8L (p.Ser8Leu) variant of VIM (Vimentin)
S8L (p.Ser8Leu) in VIM (Vimentin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S8L (p.Ser8Leu) variant details
- p.Ser8Leu
- rs779204525
- ClinGen CA376174641
- NCI-TCGA Cosmic COSV9981
- cosmic curated COSV99813
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.33
- CADD 24.30
- PolyPhen-2 0.07
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available