L19F (p.Leu19Phe) variant of IL17RA (Interleukin-17 receptor A)
L19F (p.Leu19Phe) 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 0.12 / 1. The record also includes population frequency data and structural context.
L19F (p.Leu19Phe) variant details
- p.Leu19Phe
- rs1429270259
- ClinGen CA410210159
- ClinVar RCV002031566
- gnomAD rs1429270259
- Uncertain significance
- Immunodeficiency 51
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.03
- MetaLR 0.02
- MetaSVM -0.98
- CADD 7.51
- PolyPhen-2 0.02
- SIFT 0.29
- ClinVar: Uncertain significance (Immunodeficiency 51)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 9.2e-05)
- Structural context available