E28* (p.Glu28Ter) variant of COL1A2 (Collagen alpha-2(I) chain)
E28* (p.Glu28Ter) in COL1A2 (Collagen alpha-2(I) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
E28* (p.Glu28Ter) variant details
- p.Glu28Ter
- gnomAD 7-94398382-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.602
- CADD 59.00
- Population evidence available
- Structural context available
- Literature evidence available