R31Q (p.Arg31Gln) variant of IL17F (Interleukin-17F)
R31Q (p.Arg31Gln) 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 0.08 / 1. The record also includes population frequency data and structural context.
R31Q (p.Arg31Gln) variant details
- p.Arg31Gln
- rs754531850
- ClinGen CA364445210
- ClinVar RCV003872256
- ExAC rs754531850
- Uncertain significance
- Candidiasis, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.0765
- REVEL 0.01
- MetaLR 0.02
- MetaSVM -1.00
- CADD 2.17
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Uncertain significance (Candidiasis, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available