A67S (p.Ala67Ser) variant of NLRP3 (Q96P20)
A67S (p.Ala67Ser) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A67S (p.Ala67Ser) variant details
- p.Ala67Ser
- gnomAD 1-247418999-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.04
- CADD 16.80
- PolyPhen-2 0.11
- SIFT 0.73
- Population evidence available
- Structural context available
- Literature evidence available