S44* (p.Ser44Ter) variant of CALR (Calreticulin)
S44* (p.Ser44Ter) in CALR (Calreticulin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
S44* (p.Ser44Ter) variant details
- p.Ser44Ter
- gnomAD 19-12939173-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.766
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available