R26Q (p.Arg26Gln) variant of IL1RN (P18510)
R26Q (p.Arg26Gln) in IL1RN (P18510) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autoinflammatory syndrome; Inborn genetic diseases; Sterile multifocal osteomyel. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R26Q (p.Arg26Gln) variant details
- p.Arg26Gln
- rs758363942
- ClinGen CA1838756
- NCI-TCGA Cosmic COSV5208
- cosmic curated COSV52080
- Uncertain significance
- Autoinflammatory syndrome; Inborn genetic diseases; Sterile multifocal osteomyel
- Missense
- Variant Prioritization Score for Impact Estimate 0.0805
- REVEL 0.01
- MetaLR 0.06
- MetaSVM -1.06
- CADD 7.38
- PolyPhen-2 0.03
- SIFT 0.34
- ClinVar: Uncertain significance (Autoinflammatory syndrome; Inborn genetic diseases; Sterile mult)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- 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)