P40L (p.Pro40Leu) variant of NLRP3 (Q96P20)
P40L (p.Pro40Leu) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P40L (p.Pro40Leu) variant details
- p.Pro40Leu
- rs1307114721
- gnomAD 1-247418919-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.37
- CADD 22.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available