R5C (p.Arg5Cys) variant of IL17RA (Interleukin-17 receptor A)
R5C (p.Arg5Cys) in IL17RA (Interleukin-17 receptor A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 51. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
R5C (p.Arg5Cys) variant details
- p.Arg5Cys
- rs1351337413
- ClinGen CA410210081
- ClinVar RCV001912005
- TOPMed rs1351337413
- Uncertain significance
- Immunodeficiency 51
- Missense
- Variant Prioritization Score for Impact Estimate 0.0697
- REVEL 0.01
- MetaLR 0.02
- MetaSVM -0.97
- CADD 2.23
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (Immunodeficiency 51)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3e-06)
- Structural context available