R67S (p.Arg67Ser) variant of IL17F (Interleukin-17F)
R67S (p.Arg67Ser) 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.
R67S (p.Arg67Ser) variant details
- p.Arg67Ser
- rs754476266
- ClinGen CA364444970
- ClinVar RCV001213344
- ExAC rs754476266
- Uncertain significance
- Candidiasis, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.06
- MetaLR 0.03
- MetaSVM -0.97
- CADD 7.49
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (Candidiasis, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available