K4N (p.Lys4Asn) variant of IL17F (Interleukin-17F)
K4N (p.Lys4Asn) 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 0.25 / 1. The record also includes population frequency data and structural context.
K4N (p.Lys4Asn) variant details
- p.Lys4Asn
- rs2128268858
- ClinGen CA364445380
- ClinVar RCV001955134
- Ensembl rs2128268858
- Uncertain significance
- Candidiasis, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.11
- MetaLR 0.02
- MetaSVM -1.06
- CADD 6.13
- PolyPhen-2 0.30
- SIFT 0.05
- ClinVar: Uncertain significance (Candidiasis, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available