Q26* (p.Gln26Ter) variant of COL1A2 (Collagen alpha-2(I) chain)
Q26* (p.Gln26Ter) in COL1A2 (Collagen alpha-2(I) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
Q26* (p.Gln26Ter) variant details
- p.Gln26Ter
- gnomAD 7-94397753-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.601
- CADD 46.00
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Literature evidence available