H28L (p.His28Leu) variant of NLRP3 (Q96P20)
H28L (p.His28Leu) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
H28L (p.His28Leu) variant details
- p.His28Leu
- rs766848315
- gnomAD 1-247418877-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.10
- CADD 14.10
- PolyPhen-2 0.01
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available