L22F (p.Leu22Phe) variant of IL17RA (Interleukin-17 receptor A)
L22F (p.Leu22Phe) 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 0.11 / 1. The record also includes population frequency data and structural context.
L22F (p.Leu22Phe) variant details
- p.Leu22Phe
- rs539782982
- ClinGen CA321139749
- ClinVar RCV001864037
- ClinVar RCV004616801
- Uncertain significance
- not specified; Immunodeficiency 51
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.02
- MetaLR 0.02
- MetaSVM -0.99
- CADD 8.07
- PolyPhen-2 0.01
- SIFT 0.53
- ClinVar: Uncertain significance (not specified; Immunodeficiency 51)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.011)
- Structural context available