S18L (p.Ser18Leu) variant of IL17F (Interleukin-17F)
S18L (p.Ser18Leu) in IL17F (Interleukin-17F) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Candidiasis, familial, 6; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
S18L (p.Ser18Leu) variant details
- p.Ser18Leu
- rs145598353
- ClinGen CA3854458
- ClinVar RCV000707054
- ClinVar RCV004026741
- Conflicting interpretations
- Candidiasis, familial, 6; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.06
- AlphaMissense 0.07
- MetaLR 0.01
- MetaSVM -0.93
- CADD 0.95
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Candidiasis, familial, 6; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available