Q21* (p.Gln21Ter) variant of COL6A2 (Collagen alpha-2(VI) chain)
Q21* (p.Gln21Ter) in COL6A2 (Collagen alpha-2(VI) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
Q21* (p.Gln21Ter) variant details
- p.Gln21Ter
- gnomAD 21-46111537-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.837
- CADD 36.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available