A37S (p.Ala37Ser) variant of IL1RN (P18510)
A37S (p.Ala37Ser) 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 0.26 / 1. The record also includes structural context.
A37S (p.Ala37Ser) variant details
- p.Ala37Ser
- rs1573301763
- ClinGen CA348293774
- ClinVar RCV000813494
- Ensembl rs1573301763
- Uncertain significance
- Sterile multifocal osteomyelitis with periostitis and pustulosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- AlphaMissense 0.09
- MetaLR 0.03
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.18
- EVE 0.08
- ClinVar: Uncertain significance (Sterile multifocal osteomyelitis with periostitis and pustulosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available