E75* (p.Glu75Ter) variant of NLRP1 (Q9C000)
E75* (p.Glu75Ter) in NLRP1 (Q9C000) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
E75* (p.Glu75Ter) variant details
- p.Glu75Ter
- gnomAD rs1352759412
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.257
- CADD 24.90
- Population evidence available