S4* (p.Ser4Ter) variant of SHTN1 (Shootin-1)
S4* (p.Ser4Ter) in SHTN1 (Shootin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
S4* (p.Ser4Ter) variant details
- p.Ser4Ter
- TOPMed rs1416385575
- gnomAD rs1416385575
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.806
- CADD 37.00
- Population evidence available
- Structural context available