F10I (p.Phe10Ile) variant of IFNAR2 (Interferon alpha/beta receptor 2)
F10I (p.Phe10Ile) in IFNAR2 (Interferon alpha/beta receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Associated with severe COVID-19 disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
F10I (p.Phe10Ile) variant details
- p.Phe10Ile
- rs1051393
- ClinGen CA10005497
- ClinVar RCV003397212
- 1000Genomes rs1051393
- Uncertain significance
- Associated with severe COVID-19 disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.0381
- REVEL 0.01
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Associated with severe COVID-19 disease)
- EBI: Benign (in dbSNP:rs1051393)
- UniProt: Benign (in dbSNP:rs1051393)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available