T39A (p.Thr39Ala) variant of IL17F (Interleukin-17F)
T39A (p.Thr39Ala) 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 0.06 / 1. The record also includes population frequency data and structural context.
T39A (p.Thr39Ala) variant details
- p.Thr39Ala
- rs1436156723
- ClinGen CA364445162
- ClinVar RCV001943178
- TOPMed rs1436156723
- Uncertain significance
- Candidiasis, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.0643
- REVEL 0.02
- MetaLR 0.02
- MetaSVM -1.05
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (Candidiasis, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available