V72M (p.Val72Met) variant of NLRP3 (Q96P20)
V72M (p.Val72Met) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
V72M (p.Val72Met) variant details
- p.Val72Met
- rs117287351
- gnomAD 1-247419008-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.14
- CADD 19.90
- PolyPhen-2 0.60
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available