R43K (p.Arg43Lys) variant of NLRP3 (Q96P20)
R43K (p.Arg43Lys) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R43K (p.Arg43Lys) variant details
- p.Arg43Lys
- rs201384608
- gnomAD 1-247418922-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.14
- CADD 19.50
- PolyPhen-2 0.98
- SIFT 0.76
- Population evidence available
- Structural context available
- Literature evidence available