R38R (p.Arg38Arg) variant of COL1A2 (Collagen alpha-2(I) chain)
R38R (p.Arg38Arg) in COL1A2 (Collagen alpha-2(I) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R38R (p.Arg38Arg) variant details
- p.Arg38Arg
- rs1462108134
- gnomAD 7-94399066-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.387
- CADD 19.40
- Population evidence available
- Structural context available
- Literature evidence available