V52M (p.Val52Met) variant of NLRP3 (Q96P20)
V52M (p.Val52Met) 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.
V52M (p.Val52Met) variant details
- p.Val52Met
- rs768220850
- gnomAD 1-247418948-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0914
- REVEL 0.03
- CADD 9.17
- PolyPhen-2 0.13
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available