S48* (p.Ser48Ter) variant of CMA1 (Chymase)
S48* (p.Ser48Ter) in CMA1 (Chymase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S48* (p.Ser48Ter) variant details
- p.Ser48Ter
- 1000Genomes rs142904150
- ESP rs142904150
- ExAC rs142904150
- TOPMed rs142904150
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.278
- CADD 27.90
- Most common in the 1KG:CLM population (allele frequency 0.043)
- Structural context available