A4E (p.Ala4Glu) variant of NLRP3 (Q96P20)
A4E (p.Ala4Glu) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A4E (p.Ala4Glu) variant details
- p.Ala4Glu
- gnomAD 1-247418805-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.09
- CADD 12.30
- PolyPhen-2 0.01
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available