E44* (p.Glu44Ter) variant of CALCA (P06881)
E44* (p.Glu44Ter) in CALCA (P06881) 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 and published literature.
E44* (p.Glu44Ter) variant details
- p.Glu44Ter
- gnomAD 11-14970032-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.607
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available