R5G (p.Arg5Gly) variant of IL17RA (Interleukin-17 receptor A)
R5G (p.Arg5Gly) in IL17RA (Interleukin-17 receptor A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
R5G (p.Arg5Gly) variant details
- p.Arg5Gly
- TOPMed rs1351337413
- gnomAD rs1351337413
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.075
- REVEL 0.03
- MetaLR 0.02
- MetaSVM -0.98
- CADD 0.14
- PolyPhen-2 0.03
- SIFT 0.65
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available