G104* (p.Gly104Ter) variant of COL2A1 (Collagen alpha-1(II) chain)
G104* (p.Gly104Ter) 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 0.92 / 1. The record also includes structural context.
G104* (p.Gly104Ter) variant details
- p.Gly104Ter
- rs764210489
- ClinGen CA384525441
- ClinVar RCV000732165
- ExAC rs764210489
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.922
- AlphaMissense 0.91
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.65
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available