A76E (p.Ala76Glu) variant of NLRP3 (Q96P20)
A76E (p.Ala76Glu) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A76E (p.Ala76Glu) variant details
- p.Ala76Glu
- rs200288250
- gnomAD 1-247419024-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.04
- CADD 16.60
- PolyPhen-2 0.12
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available