C47F (p.Cys47Phe) variant of IL17F (Interleukin-17F)
C47F (p.Cys47Phe) 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 0.51 / 1. The record also includes population frequency data and structural context.
C47F (p.Cys47Phe) variant details
- p.Cys47Phe
- rs760922852
- ClinGen CA3854439
- ClinVar RCV000800724
- ExAC rs760922852
- Uncertain significance
- Candidiasis, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.40
- MetaLR 0.20
- MetaSVM -0.74
- CADD 23.60
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Candidiasis, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available