Y57* (p.Tyr57Ter) variant of CALR (Calreticulin)
Y57* (p.Tyr57Ter) in CALR (Calreticulin) 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.
Y57* (p.Tyr57Ter) variant details
- p.Tyr57Ter
- 1000Genomes rs200631709
- ExAC rs200631709
- gnomAD rs200631709
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 35.00
- Population evidence available
- Structural context available