S33G (p.Ser33Gly) variant of IL1RN (P18510)
S33G (p.Ser33Gly) in IL1RN (P18510) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Sterile multifocal osteomyelitis with periostitis and pustulosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes structural context.
S33G (p.Ser33Gly) variant details
- p.Ser33Gly
- rs1687013175
- ClinGen CA348293724
- ClinVar RCV002596723
- TOPMed rs1687013175
- Uncertain significance
- Sterile multifocal osteomyelitis with periostitis and pustulosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- AlphaMissense 0.06
- MetaLR 0.05
- MetaSVM -1.03
- PolyPhen-2 0.07
- SIFT 0.14
- EVE 0.15
- ClinVar: Uncertain significance (Sterile multifocal osteomyelitis with periostitis and pustulosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available