S5G (p.Ser5Gly) variant of NLRP3 (Q96P20)
S5G (p.Ser5Gly) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S5G (p.Ser5Gly) variant details
- p.Ser5Gly
- rs567212179
- gnomAD 1-247418807-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.12
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available