Q29* (p.Gln29Ter) variant of COL2A1 (Collagen alpha-1(II) chain)
Q29* (p.Gln29Ter) 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 0.51 / 1. The record also includes population frequency data and structural context.
Q29* (p.Gln29Ter) variant details
- p.Gln29Ter
- rs1940368506
- ClinGen CA384528134
- ClinVar RCV001090712
- Ensembl rs1940368506
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.512
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available