E27E (p.Glu27Glu) variant of COL1A2 (Collagen alpha-2(I) chain)
E27E (p.Glu27Glu) in COL1A2 (Collagen alpha-2(I) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
E27E (p.Glu27Glu) variant details
- p.Glu27Glu
- gnomAD 7-94397758-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.641
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available