Q89R (p.Gln89Arg) variant of ACVR1 (Activin receptor type-1)
Q89R (p.Gln89Arg) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
Q89R (p.Gln89Arg) variant details
- p.Gln89Arg
- TOPMed rs1033271814
- gnomAD rs1033271814
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.49
- CADD 22.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available