H38Y (p.His38Tyr) variant of IL17F (Interleukin-17F)
H38Y (p.His38Tyr) 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 0.10 / 1. The record also includes population frequency data and structural context.
H38Y (p.His38Tyr) variant details
- p.His38Tyr
- rs555372013
- ClinGen CA3854443
- ClinVar RCV003121569
- 1000Genomes rs555372013
- Uncertain significance
- Candidiasis, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.07
- MetaLR 0.02
- MetaSVM -1.01
- CADD 0.62
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Candidiasis, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available