L18P (p.Leu18Pro) variant of IL17RA (Interleukin-17 receptor A)
L18P (p.Leu18Pro) 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 0.11 / 1. The record also includes population frequency data and structural context.
L18P (p.Leu18Pro) variant details
- p.Leu18Pro
- rs2061321486
- ClinGen CA410210155
- ClinVar RCV001325608
- Ensembl rs2061321486
- Uncertain significance
- Immunodeficiency 51
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.05
- MetaLR 0.01
- MetaSVM -0.95
- CADD 10.10
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (Immunodeficiency 51)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.8e-06)
- Structural context available