R72C (p.Arg72Cys) variant of IL17F (Interleukin-17F)
R72C (p.Arg72Cys) in IL17F (Interleukin-17F) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Candidiasis, familial, 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R72C (p.Arg72Cys) variant details
- p.Arg72Cys
- rs764500129
- ClinGen CA3854423
- NCI-TCGA Cosmic COSV1002
- NCI-TCGA Cosmic COSV6023
- Uncertain significance
- not specified; Candidiasis, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.16
- MetaLR 0.06
- MetaSVM -1.06
- CADD 20.90
- PolyPhen-2 0.77
- SIFT 0.18
- ClinVar: Uncertain significance (not specified; Candidiasis, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00033)
- Structural context available