G58V (p.Gly58Val) variant of IL1RN (P18510)
G58V (p.Gly58Val) 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 0.43 / 1. The record also includes population frequency data and structural context.
G58V (p.Gly58Val) variant details
- p.Gly58Val
- rs1281227831
- ClinGen CA348294619
- ClinVar RCV001873903
- TOPMed rs1281227831
- Uncertain significance
- Sterile multifocal osteomyelitis with periostitis and pustulosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.33
- MetaLR 0.07
- MetaSVM -1.08
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Uncertain significance (Sterile multifocal osteomyelitis with periostitis and pustulosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available