P8L (p.Pro8Leu) variant of IL17RA (Interleukin-17 receptor A)
P8L (p.Pro8Leu) 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 0.28 / 1. The record also includes population frequency data and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- rs2123786576
- ClinGen CA410210102
- ClinVar RCV002034997
- ClinVar RCV005851926
- Uncertain significance
- not specified; Immunodeficiency 51
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.02
- MetaLR 0.02
- MetaSVM -1.00
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (not specified; Immunodeficiency 51)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.6e-05)
- Structural context available