E45G (p.Glu45Gly) variant of IL17F (Interleukin-17F)
E45G (p.Glu45Gly) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
E45G (p.Glu45Gly) variant details
- p.Glu45Gly
- rs535783581
- ClinGen CA3854440
- ClinVar RCV002647790
- ClinVar RCV004072100
- Uncertain significance
- Candidiasis, familial, 6; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.05
- MetaLR 0.02
- MetaSVM -0.96
- CADD 6.42
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Uncertain significance (Candidiasis, familial, 6; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available