W98* (p.Trp98Ter) variant of ACVR1 (Activin receptor type-1)
W98* (p.Trp98Ter) in ACVR1 (Activin receptor type-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
W98* (p.Trp98Ter) variant details
- p.Trp98Ter
- ExAC rs769135409
- gnomAD rs769135409
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.856
- CADD 37.00
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available