P7Q (p.Pro7Gln) variant of IL17RA (Interleukin-17 receptor A)
P7Q (p.Pro7Gln) 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 0.07 / 1. The record also includes population frequency data and structural context.
P7Q (p.Pro7Gln) variant details
- p.Pro7Gln
- 1000Genomes rs143652002
- ExAC rs143652002
- TOPMed rs143652002
- gnomAD rs143652002
- Uncertain significance
- Immunodeficiency 51
- Missense
- Variant Prioritization Score for Impact Estimate 0.0734
- REVEL 0.02
- MetaLR 0.01
- MetaSVM -0.92
- CADD 4.32
- PolyPhen-2 0.06
- SIFT 0.41
- ClinVar: Uncertain significance (Immunodeficiency 51)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available