F8S (p.Phe8Ser) variant of IFNAR2 (Interferon alpha/beta receptor 2)
F8S (p.Phe8Ser) in IFNAR2 (Interferon alpha/beta receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Immunodeficiency 45; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
F8S (p.Phe8Ser) variant details
- p.Phe8Ser
- rs2229207
- ClinGen CA118670
- cosmic curated COSV59747
- ClinVar RCV000007711
- Benign
- Immunodeficiency 45; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0362
- REVEL 0.01
- CADD 1.04
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Benign (Immunodeficiency 45; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Class II cytokine receptor gene cluster is a major locus for hepatitis B persistence. (PMID 16757563)