D16N (p.Asp16Asn) variant of NLRP3 (Q96P20)
D16N (p.Asp16Asn) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
D16N (p.Asp16Asn) variant details
- p.Asp16Asn
- rs776283728
- gnomAD 1-247418840-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.18
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available