R80K (p.Arg80Lys) variant of NLRP3 (Q96P20)
R80K (p.Arg80Lys) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R80K (p.Arg80Lys) variant details
- p.Arg80Lys
- rs1415851362
- gnomAD 1-247419036-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.17
- CADD 22.70
- Population evidence available
- Structural context available
- Literature evidence available