Q27* (p.Gln27Ter) variant of PSTPIP1 (O43586)
Q27* (p.Gln27Ter) 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, and structural context.
Q27* (p.Gln27Ter) variant details
- p.Gln27Ter
- TOPMed rs2076088910
- 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 -0.0981