E22* (p.Glu22Ter) variant of COL6A1 (Collagen alpha-1(VI) chain)
E22* (p.Glu22Ter) in COL6A1 (Collagen alpha-1(VI) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E22* (p.Glu22Ter) variant details
- p.Glu22Ter
- gnomAD 21-45981914-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.273
- CADD 27.20
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available