R7C (p.Arg7Cys) variant of NLRP3 (Q96P20)
R7C (p.Arg7Cys) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R7C (p.Arg7Cys) variant details
- p.Arg7Cys
- rs1033902069
- gnomAD 1-247418813-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.29
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available