H28Q (p.His28Gln) variant of NLRP3 (Q96P20)
H28Q (p.His28Gln) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
H28Q (p.His28Gln) variant details
- p.His28Gln
- rs1364827467
- gnomAD 1-247418878-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.07
- CADD 7.53
- PolyPhen-2 0.06
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available