E27* (p.Glu27Ter) variant of COL1A2 (Collagen alpha-2(I) chain)
E27* (p.Glu27Ter) in COL1A2 (Collagen alpha-2(I) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E27* (p.Glu27Ter) variant details
- p.Glu27Ter
- gnomAD 7-94397756-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.447
- CADD 56.00
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Literature evidence available