C38Y (p.Cys38Tyr) variant of NLRP3 (Q96P20)
C38Y (p.Cys38Tyr) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
C38Y (p.Cys38Tyr) variant details
- p.Cys38Tyr
- gnomAD 1-247418907-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0939
- REVEL 0.04
- CADD 2.60
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available