C8R (p.Cys8Arg) variant of NLRP3 (Q96P20)
C8R (p.Cys8Arg) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
C8R (p.Cys8Arg) variant details
- p.Cys8Arg
- rs1441181465
- gnomAD 1-247418816-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.26
- CADD 24.70
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available