E27R (p.Glu27Arg) variant of COL1A2 (Collagen alpha-2(I) chain)
E27R (p.Glu27Arg) in COL1A2 (Collagen alpha-2(I) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E27R (p.Glu27Arg) variant details
- p.Glu27Arg
- gnomAD 7-94397753-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.552
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available