V72L (p.Val72Leu) variant of NLRP3 (Q96P20)
V72L (p.Val72Leu) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
V72L (p.Val72Leu) variant details
- p.Val72Leu
- rs117287351
- gnomAD 1-247419008-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0888
- REVEL 0.04
- CADD 3.74
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available