R51R (p.Arg51Arg) variant of COL6A1 (Collagen alpha-1(VI) chain)
R51R (p.Arg51Arg) in COL6A1 (Collagen alpha-1(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R51R (p.Arg51Arg) variant details
- p.Arg51Arg
- rs200311716
- gnomAD 21-45982689-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.427
- CADD 15.20
- Most common in the 1KG:LWK population (allele frequency 0.012)
- Structural context available
- Literature evidence available