H28R (p.His28Arg) variant of NLRP3 (Q96P20)
H28R (p.His28Arg) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
H28R (p.His28Arg) variant details
- p.His28Arg
- rs766848315
- gnomAD 1-247418877-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.04
- CADD 14.00
- PolyPhen-2 0.34
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available