Q32* (p.Gln32Ter) variant of COL6A1 (Collagen alpha-1(VI) chain)
Q32* (p.Gln32Ter) in COL6A1 (Collagen alpha-1(VI) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
Q32* (p.Gln32Ter) variant details
- p.Gln32Ter
- TOPMed rs1194246077
- gnomAD rs1194246077
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.74
- CADD 37.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available