E45K (p.Glu45Lys) variant of IL17F (Interleukin-17F)
E45K (p.Glu45Lys) in IL17F (Interleukin-17F) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Candidiasis, familial, 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
E45K (p.Glu45Lys) variant details
- p.Glu45Lys
- rs1238529220
- ClinGen CA364445120
- ClinVar RCV003641665
- gnomAD rs1238529220
- Uncertain significance
- Candidiasis, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.0929
- REVEL 0.02
- MetaLR 0.02
- MetaSVM -0.96
- CADD 0.24
- PolyPhen-2 0.01
- SIFT 0.83
- ClinVar: Uncertain significance (Candidiasis, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available