E64K (p.Glu64Lys) variant of NLRP3 (Q96P20)
E64K (p.Glu64Lys) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E64K (p.Glu64Lys) variant details
- p.Glu64Lys
- gnomAD 1-247418987-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.10
- CADD 18.90
- PolyPhen-2 0.04
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available