R31* (p.Arg31Ter) variant of COL1A2 (Collagen alpha-2(I) chain)
R31* (p.Arg31Ter) 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.
R31* (p.Arg31Ter) variant details
- p.Arg31Ter
- gnomAD 7-94398391-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.55
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available