C34* (p.Cys34Ter) variant of COL2A1 (Collagen alpha-1(II) chain)
C34* (p.Cys34Ter) 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 0.97 / 1. The record also includes structural context.
C34* (p.Cys34Ter) variant details
- p.Cys34Ter
- rs2136637552
- ClinGen CA384526775
- ClinVar RCV003046197
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.967
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.85
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available