D46A (p.Asp46Ala) variant of ACVR1 (Activin receptor type-1)
D46A (p.Asp46Ala) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
D46A (p.Asp46Ala) variant details
- p.Asp46Ala
- TOPMed rs1219780031
- gnomAD rs1219780031
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.38
- CADD 21.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available