F75S (p.Phe75Ser) variant of NLRP3 (Q96P20)
F75S (p.Phe75Ser) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
F75S (p.Phe75Ser) variant details
- p.Phe75Ser
- gnomAD 1-247419018-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.50
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available