E64* (p.Glu64Ter) variant of NLRP3 (Q96P20)
E64* (p.Glu64Ter) in NLRP3 (Q96P20) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
E64* (p.Glu64Ter) variant details
- p.Glu64Ter
- rs1558185559
- gnomAD 1-247418984-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.719
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available