G33G (p.Gly33Gly) variant of COL1A2 (Collagen alpha-2(I) chain)
G33G (p.Gly33Gly) in COL1A2 (Collagen alpha-2(I) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G33G (p.Gly33Gly) variant details
- p.Gly33Gly
- gnomAD 7-94399051-C-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.213
- CADD 14.80
- Population evidence available
- Structural context available
- Literature evidence available