Q98* (p.Gln98Ter) variant of COL5A2 (Collagen alpha-2(V) chain)
Q98* (p.Gln98Ter) in COL5A2 (Collagen alpha-2(V) chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
Q98* (p.Gln98Ter) variant details
- p.Gln98Ter
- rs2105711947
- ClinGen CA349867437
- ClinVar RCV001760940
- Ensembl rs2105711947
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available