G19S (p.Gly19Ser) variant of VIM (Vimentin)
G19S (p.Gly19Ser) in VIM (Vimentin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G19S (p.Gly19Ser) variant details
- p.Gly19Ser
- rs771023210
- ClinGen CA5426340
- ClinVar RCV004348935
- ExAC rs771023210
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.22
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.83
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available