Q60* (p.Gln60Ter) variant of COL6A2 (Collagen alpha-2(VI) chain)
Q60* (p.Gln60Ter) in COL6A2 (Collagen alpha-2(VI) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q60* (p.Gln60Ter) variant details
- p.Gln60Ter
- gnomAD 21-46112041-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.848
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available