P7S (p.Pro7Ser) variant of IL17RA (Interleukin-17 receptor A)
P7S (p.Pro7Ser) in IL17RA (Interleukin-17 receptor A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Immunodeficiency 51. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- rs534399492
- ClinGen CA10086204
- ClinVar RCV000886918
- ClinVar RCV004773208
- Conflicting interpretations
- not provided; Immunodeficiency 51
- Missense
- Variant Prioritization Score for Impact Estimate 0.0616
- REVEL 0.01
- MetaLR 0.01
- MetaSVM -0.96
- CADD 0.06
- PolyPhen-2 0.01
- SIFT 0.70
- ClinVar: Conflicting classifications of pathogenicity (not provided; Immunodeficiency 51)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available