I56* (p.Ile56Ter) variant of CMA1 (Chymase)
I56* (p.Ile56Ter) in CMA1 (Chymase) 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.
I56* (p.Ile56Ter) variant details
- p.Ile56Ter
- rs542619483
- gnomAD 14-24507398-AT-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 24.20
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Literature evidence available