S46N (p.Ser46Asn) variant of IL17F (Interleukin-17F)
S46N (p.Ser46Asn) 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 0.15 / 1. The record also includes population frequency data and structural context.
S46N (p.Ser46Asn) variant details
- p.Ser46Asn
- rs1442309467
- ClinGen CA364445110
- ClinVar RCV003525518
- gnomAD rs1442309467
- Uncertain significance
- Candidiasis, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.08
- MetaLR 0.02
- MetaSVM -1.06
- CADD 0.48
- PolyPhen-2 0.00
- SIFT 0.98
- ClinVar: Uncertain significance (Candidiasis, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 7.5e-05)
- Structural context available