S6N (p.Ser6Asn) variant of IL17RA (Interleukin-17 receptor A)
S6N (p.Ser6Asn) 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 0.11 / 1. The record also includes population frequency data and structural context.
S6N (p.Ser6Asn) variant details
- p.Ser6Asn
- rs2061321130
- ClinGen CA410210089
- ClinVar RCV003087901
- Uncertain significance
- Immunodeficiency 51
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.01
- MetaLR 0.01
- MetaSVM -0.91
- CADD 1.01
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Immunodeficiency 51)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-06)
- Structural context available