D45* (p.Asp45Ter) variant of CALCA (P06881)
D45* (p.Asp45Ter) in CALCA (P06881) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and published literature.
D45* (p.Asp45Ter) variant details
- p.Asp45Ter
- rs782589637
- gnomAD 11-14970029-C-CA
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.521
- CADD 21.80
- Most common in the South Asian population (allele frequency 7e-05)
- Literature evidence available