E44* (p.Glu44Ter) variant of SHTN1 (Shootin-1)
E44* (p.Glu44Ter) in SHTN1 (Shootin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
E44* (p.Glu44Ter) variant details
- p.Glu44Ter
- TOPMed rs1266359126
- gnomAD rs1266359126
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.875
- CADD 39.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available