Q26* (p.Gln26Ter) variant of COL2A1 (Collagen alpha-1(II) chain)
Q26* (p.Gln26Ter) in COL2A1 (Collagen alpha-1(II) chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
Q26* (p.Gln26Ter) variant details
- p.Gln26Ter
- rs2540194058
- ClinGen CA384528173
- ClinVar RCV002842009
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.765
- CADD 42.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available