G16S (p.Gly16Ser) variant of VIM (Vimentin)
G16S (p.Gly16Ser) in VIM (Vimentin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cataract 30. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G16S (p.Gly16Ser) variant details
- p.Gly16Ser
- rs773471865
- ClinGen CA376174754
- ClinVar RCV002272865
- ExAC rs773471865
- Uncertain significance
- Cataract 30
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.68
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (Cataract 30)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available