Q45* (p.Gln45Ter) variant of NLRP3 (Q96P20)
Q45* (p.Gln45Ter) in NLRP3 (Q96P20) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
Q45* (p.Gln45Ter) variant details
- p.Gln45Ter
- rs1558185400
- gnomAD 1-247418927-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.697
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available