Q45R (p.Gln45Arg) variant of NLRP3 (Q96P20)
Q45R (p.Gln45Arg) 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.
Q45R (p.Gln45Arg) variant details
- p.Gln45Arg
- gnomAD 1-247418928-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.17
- CADD 5.76
- PolyPhen-2 0.08
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available