A57S (p.Ala57Ser) variant of IL1RN (P18510)
A57S (p.Ala57Ser) 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 0.39 / 1. The record also includes population frequency data and structural context.
A57S (p.Ala57Ser) variant details
- p.Ala57Ser
- rs777996358
- ClinGen CA1838797
- ClinVar RCV001220016
- ExAC rs777996358
- Uncertain significance
- Sterile multifocal osteomyelitis with periostitis and pustulosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.24
- MetaLR 0.10
- MetaSVM -0.93
- CADD 24.40
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Uncertain significance (Sterile multifocal osteomyelitis with periostitis and pustulosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available