V20E (p.Val20Glu) variant of NLRP3 (Q96P20)
V20E (p.Val20Glu) 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.
V20E (p.Val20Glu) variant details
- p.Val20Glu
- rs1477422925
- gnomAD 1-247418853-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0858
- REVEL 0.05
- CADD 4.89
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available