W50* (p.Trp50Ter) variant of ACVRL1 (Activin receptor type-1-like)
W50* (p.Trp50Ter) in ACVRL1 (Activin receptor type-1-like) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
W50* (p.Trp50Ter) variant details
- p.Trp50Ter
- gnomAD 12-51913186-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.829
- CADD 36.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available