R8R (p.Arg8Arg) variant of COL1A2 (Collagen alpha-2(I) chain)
R8R (p.Arg8Arg) in COL1A2 (Collagen alpha-2(I) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R8R (p.Arg8Arg) variant details
- p.Arg8Arg
- gnomAD 7-94395055-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.468
- CADD 14.80
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available