P44S (p.Pro44Ser) variant of IL17F (Interleukin-17F)
P44S (p.Pro44Ser) 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 0.11 / 1. The record also includes population frequency data and structural context.
P44S (p.Pro44Ser) variant details
- p.Pro44Ser
- rs1331321771
- ClinGen CA364445125
- ClinVar RCV002999268
- TOPMed rs1331321771
- Uncertain significance
- Candidiasis, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.05
- MetaLR 0.03
- MetaSVM -0.98
- CADD 5.00
- PolyPhen-2 0.01
- SIFT 0.37
- ClinVar: Uncertain significance (Candidiasis, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available