K4R (p.Lys4Arg) variant of IL17F (Interleukin-17F)
K4R (p.Lys4Arg) 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 0.13 / 1. The record also includes population frequency data and structural context.
K4R (p.Lys4Arg) variant details
- p.Lys4Arg
- rs774716157
- ClinGen CA3854484
- ClinVar RCV003641891
- ExAC rs774716157
- Uncertain significance
- Candidiasis, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.01
- MetaLR 0.02
- MetaSVM -1.02
- CADD 1.03
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (Candidiasis, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available