P28L (p.Pro28Leu) variant of IL17RA (Interleukin-17 receptor A)
P28L (p.Pro28Leu) 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.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- rs1487756841
- ClinGen CA410210208
- ClinVar RCV002914277
- ClinVar RCV004632097
- Uncertain significance
- not specified; Immunodeficiency 51
- Missense
- Variant Prioritization Score for Impact Estimate 0.0936
- REVEL 0.02
- MetaLR 0.03
- MetaSVM -1.00
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (not specified; Immunodeficiency 51)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available