S9F (p.Ser9Phe) variant of IL17RA (Interleukin-17 receptor A)
S9F (p.Ser9Phe) 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 0.08 / 1. The record also includes population frequency data and structural context.
S9F (p.Ser9Phe) variant details
- p.Ser9Phe
- rs752407403
- ClinGen CA10086206
- ClinVar RCV000796551
- ExAC rs752407403
- Uncertain significance
- Immunodeficiency 51
- Missense
- Variant Prioritization Score for Impact Estimate 0.0785
- REVEL 0.01
- MetaLR 0.01
- MetaSVM -0.94
- CADD 7.85
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Immunodeficiency 51)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:ORCADIAN population (allele frequency 0.036)
- Structural context available