L83I (p.Leu83Ile) variant of NLRP3 (Q96P20)
L83I (p.Leu83Ile) in NLRP3 (Q96P20) is a missense 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.
L83I (p.Leu83Ile) variant details
- p.Leu83Ile
- rs1374273720
- gnomAD 1-247419041-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.47
- CADD 24.30
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available