C41* (p.Cys41Ter) variant of ACVRL1 (Activin receptor type-1-like)
C41* (p.Cys41Ter) in ACVRL1 (Activin receptor type-1-like) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
C41* (p.Cys41Ter) variant details
- p.Cys41Ter
- gnomAD 12-51913160-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.612
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available