F66C (p.Phe66Cys) variant of IL18 (Interleukin-18)
F66C (p.Phe66Cys) 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 0.50 / 1. The record also includes population frequency data and structural context.
F66C (p.Phe66Cys) variant details
- p.Phe66Cys
- TOPMed rs1184810403
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.45
- MetaLR 0.42
- MetaSVM -0.14
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available