I39L (p.Ile39Leu) variant of NLRP3 (Q96P20)
I39L (p.Ile39Leu) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
I39L (p.Ile39Leu) variant details
- p.Ile39Leu
- rs1384776701
- gnomAD 1-247418909-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0547
- REVEL 0.03
- CADD 4.67
- PolyPhen-2 0.01
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available