D19H (p.Asp19His) variant of NLRP3 (Q96P20)
D19H (p.Asp19His) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
D19H (p.Asp19His) variant details
- p.Asp19His
- rs200154873
- gnomAD 1-247418855-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.31
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available