R28Q (p.Arg28Gln) variant of ACVRL1 (Activin receptor type-1-like)
R28Q (p.Arg28Gln) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R28Q (p.Arg28Gln) variant details
- p.Arg28Gln
- ExAC rs767447976
- TOPMed rs767447976
- gnomAD rs767447976
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.18
- CADD 9.28
- PolyPhen-2 0.00
- SIFT 0.78
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available