A16A (p.Ala16Ala) variant of ACVRL1 (Activin receptor type-1-like)
A16A (p.Ala16Ala) in ACVRL1 (Activin receptor type-1-like) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A16A (p.Ala16Ala) variant details
- p.Ala16Ala
- rs1409264215
- gnomAD 12-51912522-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.259
- CADD 12.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available