P48S (p.Pro48Ser) variant of IL17F (Interleukin-17F)
P48S (p.Pro48Ser) 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 0.39 / 1. The record also includes population frequency data and structural context.
P48S (p.Pro48Ser) variant details
- p.Pro48Ser
- rs772268344
- ClinGen CA3854437
- NCI-TCGA Cosmic COSV1002
- ClinVar RCV003526831
- Uncertain significance
- Candidiasis, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.36
- MetaLR 0.15
- MetaSVM -0.79
- CADD 22.50
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Uncertain significance (Candidiasis, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available