P27S (p.Pro27Ser) variant of IL1RN (P18510)
P27S (p.Pro27Ser) in IL1RN (P18510) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Sterile multifocal osteomyelitis with periostitis and p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P27S (p.Pro27Ser) variant details
- p.Pro27Ser
- rs747206860
- ClinGen CA1838757
- ClinVar RCV000646721
- ClinVar RCV005348171
- Uncertain significance
- Inborn genetic diseases; Sterile multifocal osteomyelitis with periostitis and p
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.10
- MetaLR 0.15
- MetaSVM -0.88
- CADD 11.80
- PolyPhen-2 0.06
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases; Sterile multifocal osteomyelitis with p)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-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)