G24R (p.Gly24Arg) variant of IL17RA (Interleukin-17 receptor A)
G24R (p.Gly24Arg) 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 not specified; Immunodeficiency 51. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
G24R (p.Gly24Arg) variant details
- p.Gly24Arg
- rs41510847
- ClinGen CA10086214
- ClinVar RCV000548005
- ClinVar RCV004024362
- Uncertain significance
- not specified; Immunodeficiency 51
- Missense
- Variant Prioritization Score for Impact Estimate 0.0884
- REVEL 0.02
- MetaLR 0.01
- MetaSVM -0.94
- CADD 9.11
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Uncertain significance (not specified; Immunodeficiency 51)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.0087)
- Structural context available