G44D (p.Gly44Asp) variant of NLRP3 (Q96P20)
G44D (p.Gly44Asp) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G44D (p.Gly44Asp) variant details
- p.Gly44Asp
- rs745630984
- gnomAD 1-247418925-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.26
- CADD 23.60
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available