C36* (p.Cys36Ter) variant of PSTPIP1 (O43586)
C36* (p.Cys36Ter) in PSTPIP1 (O43586) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C36* (p.Cys36Ter) variant details
- p.Cys36Ter
- gnomAD 15-77018219-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.855
- CADD 37.00
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.0433
- Literature evidence available