C37* (p.Cys37Ter) variant of ACVR1 (Activin receptor type-1)
C37* (p.Cys37Ter) in ACVR1 (Activin receptor type-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
C37* (p.Cys37Ter) variant details
- p.Cys37Ter
- cosmic curated COSV55117
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.674
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available