R6R (p.Arg6Arg) variant of COL5A1 (Collagen alpha-1(V) chain)
R6R (p.Arg6Arg) in COL5A1 (Collagen alpha-1(V) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R6R (p.Arg6Arg) variant details
- p.Arg6Arg
- gnomAD 9-134642205-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.541
- CADD 15.50
- Population evidence available
- Structural context available
- Literature evidence available