R28G (p.Arg28Gly) variant of ACVRL1 (Activin receptor type-1-like)
R28G (p.Arg28Gly) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R28G (p.Arg28Gly) variant details
- p.Arg28Gly
- gnomAD 12-51913119-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.22
- CADD 12.30
- PolyPhen-2 0.02
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available