E28E (p.Glu28Glu) variant of COL1A2 (Collagen alpha-2(I) chain)
E28E (p.Glu28Glu) in COL1A2 (Collagen alpha-2(I) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E28E (p.Glu28Glu) variant details
- p.Glu28Glu
- gnomAD 7-94398384-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.408
- CADD 16.80
- Population evidence available
- Structural context available
- Literature evidence available