T23M (p.Thr23Met) variant of IL1RN (P18510)
T23M (p.Thr23Met) 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; Microvascular. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
T23M (p.Thr23Met) variant details
- p.Thr23Met
- rs55860727
- ClinGen CA1838751
- cosmic curated COSV99381
- ClinVar RCV001027789
- Uncertain significance
- Sterile multifocal osteomyelitis with periostitis and pustulosis; Microvascular
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.17
- MetaLR 0.26
- MetaSVM -0.76
- CADD 22.40
- PolyPhen-2 0.72
- SIFT 0.01
- ClinVar: Uncertain significance (Sterile multifocal osteomyelitis with periostitis and pustulosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)