E55* (p.Glu55Ter) variant of COL6A2 (Collagen alpha-2(VI) chain)
E55* (p.Glu55Ter) in COL6A2 (Collagen alpha-2(VI) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E55* (p.Glu55Ter) variant details
- p.Glu55Ter
- gnomAD 21-46112026-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.856
- CADD 39.00
- Population evidence available
- Structural context available
- Literature evidence available