G21Y (p.Gly21Tyr) variant of ACVRL1 (Activin receptor type-1-like)
G21Y (p.Gly21Tyr) in ACVRL1 (Activin receptor type-1-like) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G21Y (p.Gly21Tyr) variant details
- p.Gly21Tyr
- gnomAD 12-51912533-A-AGT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.248
- CADD 23.60
- Population evidence available
- Structural context available
- Literature evidence available