D6I (p.Asp6Ile) variant of COL1A2 (Collagen alpha-2(I) chain)
D6I (p.Asp6Ile) in COL1A2 (Collagen alpha-2(I) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
D6I (p.Asp6Ile) variant details
- p.Asp6Ile
- gnomAD 7-94395045-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available