D50H (p.Asp50His) variant of NLRP3 (Q96P20)
D50H (p.Asp50His) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
D50H (p.Asp50His) variant details
- p.Asp50His
- rs1213082528
- gnomAD 1-247418942-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.32
- CADD 24.00
- PolyPhen-2 0.84
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available