F25C (p.Phe25Cys) variant of IL18 (Interleukin-18)
F25C (p.Phe25Cys) in IL18 (Interleukin-18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
F25C (p.Phe25Cys) variant details
- p.Phe25Cys
- rs1271061057
- ClinGen CA382615489
- ClinVar RCV004405066
- TOPMed rs1271061057
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.40
- MetaLR 0.31
- MetaSVM -0.30
- CADD 24.80
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available