E40* (p.Glu40Ter) variant of PSTPIP1 (O43586)
E40* (p.Glu40Ter) in PSTPIP1 (O43586) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E40* (p.Glu40Ter) variant details
- p.Glu40Ter
- gnomAD 15-77018229-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.869
- CADD 45.00
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.189
- Literature evidence available