F19L (p.Phe19Leu) variant of IL1RN (P18510)
F19L (p.Phe19Leu) in IL1RN (P18510) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified; Sterile multifocal osteomyelitis with periostitis and pustulosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
F19L (p.Phe19Leu) variant details
- p.Phe19Leu
- rs970470359
- ClinGen CA53692952
- ClinVar RCV003629762
- TOPMed rs970470359
- Likely benign
- not specified; Sterile multifocal osteomyelitis with periostitis and pustulosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.10
- CADD 10.40
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Likely benign (not specified; Sterile multifocal osteomyelitis with periostitis)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available