R43S (p.Arg43Ser) variant of NLRP3 (Q96P20)
R43S (p.Arg43Ser) 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.
R43S (p.Arg43Ser) variant details
- p.Arg43Ser
- rs1558185391
- gnomAD 1-247418923-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.21
- CADD 22.10
- PolyPhen-2 1.00
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available