R89E (p.Arg89Glu) variant of NLRP3 (Q96P20)
R89E (p.Arg89Glu) in NLRP3 (Q96P20) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R89E (p.Arg89Glu) variant details
- p.Arg89Glu
- rs761426691
- gnomAD 1-247419054-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.576
- CADD 16.60
- Population evidence available
- Structural context available
- Literature evidence available