L19R (p.Leu19Arg) variant of IL17RA (Interleukin-17 receptor A)
L19R (p.Leu19Arg) 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 0.23 / 1. The record also includes population frequency data and structural context.
L19R (p.Leu19Arg) variant details
- p.Leu19Arg
- rs937902710
- ClinGen CA321139746
- ClinVar RCV001236340
- TOPMed rs937902710
- Uncertain significance
- Immunodeficiency 51
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.16
- MetaLR 0.05
- MetaSVM -1.08
- CADD 22.60
- PolyPhen-2 0.80
- SIFT 0.14
- ClinVar: Uncertain significance (Immunodeficiency 51)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available