R28R (p.Arg28Arg) variant of ACVRL1 (Activin receptor type-1-like)
R28R (p.Arg28Arg) in ACVRL1 (Activin receptor type-1-like) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R28R (p.Arg28Arg) variant details
- p.Arg28Arg
- gnomAD 12-51913119-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.284
- CADD 7.80
- Population evidence available
- Structural context available
- Literature evidence available