Q106P (p.Gln106Pro) variant of ACVR1 (Activin receptor type-1)
Q106P (p.Gln106Pro) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
Q106P (p.Gln106Pro) variant details
- p.Gln106Pro
- TOPMed rs1686456996
- gnomAD rs1686456996
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.46
- CADD 19.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available