G119E (p.Gly119Glu) variant of COL6A3 (Collagen alpha-3(VI) chain)
G119E (p.Gly119Glu) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
G119E (p.Gly119Glu) variant details
- p.Gly119Glu
- ExAC rs763755907
- TOPMed rs763755907
- gnomAD rs763755907
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.91
- MetaLR 0.84
- MetaSVM 0.97
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available