R5R (p.Arg5Arg) variant of COL6A1 (Collagen alpha-1(VI) chain)
R5R (p.Arg5Arg) in COL6A1 (Collagen alpha-1(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
R5R (p.Arg5Arg) variant details
- p.Arg5Arg
- rs2123459083
- gnomAD 21-45981865-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.115
- CADD 4.80
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available