Q13* (p.Gln13Ter) variant of COL6A1 (Collagen alpha-1(VI) chain)
Q13* (p.Gln13Ter) in COL6A1 (Collagen alpha-1(VI) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
Q13* (p.Gln13Ter) variant details
- p.Gln13Ter
- gnomAD 21-45981887-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.726
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available