L54I (p.Leu54Ile) variant of NLRP3 (Q96P20)
L54I (p.Leu54Ile) 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.
L54I (p.Leu54Ile) variant details
- p.Leu54Ile
- gnomAD 1-247418954-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.19
- CADD 22.60
- PolyPhen-2 0.99
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available