D82N (p.Asp82Asn) variant of NLRP3 (Q96P20)
D82N (p.Asp82Asn) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
D82N (p.Asp82Asn) variant details
- p.Asp82Asn
- rs1191599576
- gnomAD 1-247419038-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.16
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available