L13* (p.Leu13Ter) variant of CMA1 (Chymase)
L13* (p.Leu13Ter) in CMA1 (Chymase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
L13* (p.Leu13Ter) variant details
- p.Leu13Ter
- Ensembl rs2043875573
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 36.00
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available