P7L (p.Pro7Leu) variant of IL17RA (Interleukin-17 receptor A)
P7L (p.Pro7Leu) in IL17RA (Interleukin-17 receptor A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Immunodeficiency 51; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
P7L (p.Pro7Leu) variant details
- p.Pro7Leu
- rs143652002
- ClinGen CA10086205
- cosmic curated COSV60055
- ClinVar RCV000533617
- Likely benign
- Immunodeficiency 51; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0721
- REVEL 0.01
- MetaLR 0.01
- MetaSVM -0.94
- CADD 4.88
- PolyPhen-2 0.01
- SIFT 0.68
- ClinVar: Likely benign (Immunodeficiency 51; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:ADYGEI population (allele frequency 0.029)
- Structural context available