R28P (p.Arg28Pro) variant of ACVRL1 (Activin receptor type-1-like)
R28P (p.Arg28Pro) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R28P (p.Arg28Pro) variant details
- p.Arg28Pro
- ExAC rs767447976
- TOPMed rs767447976
- gnomAD rs767447976
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.46
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available