E47Q (p.Glu47Gln) variant of NLRP3 (Q96P20)
E47Q (p.Glu47Gln) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E47Q (p.Glu47Gln) variant details
- p.Glu47Gln
- gnomAD 1-247418933-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.22
- CADD 23.20
- PolyPhen-2 0.93
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available