P48L (p.Pro48Leu) variant of IL17F (Interleukin-17F)
P48L (p.Pro48Leu) in IL17F (Interleukin-17F) is a missense change. Clinical records from ClinVar 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 0.48 / 1. The record also includes population frequency data and structural context.
P48L (p.Pro48Leu) variant details
- p.Pro48Leu
- rs1390182393
- gnomAD rs1390182393
- Uncertain significance
- Candidiasis, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.35
- MetaLR 0.18
- MetaSVM -0.88
- CADD 23.80
- PolyPhen-2 0.98
- SIFT 0.04
- ClinVar: Uncertain significance (Candidiasis, familial, 6)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available