R47R (p.Arg47Arg) variant of ACVRL1 (Activin receptor type-1-like)
R47R (p.Arg47Arg) in ACVRL1 (Activin receptor type-1-like) 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.
R47R (p.Arg47Arg) variant details
- p.Arg47Arg
- gnomAD 12-51913176-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.394
- CADD 12.70
- Population evidence available
- Structural context available
- Literature evidence available