G4G (p.Gly4Gly) variant of ACVRL1 (Activin receptor type-1-like)
G4G (p.Gly4Gly) in ACVRL1 (Activin receptor type-1-like) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G4G (p.Gly4Gly) variant details
- p.Gly4Gly
- gnomAD 12-51912486-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.214
- CADD 5.48
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available