I46M (p.Ile46Met) variant of IFNAR1 (Interferon alpha/beta receptor 1)
I46M (p.Ile46Met) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
I46M (p.Ile46Met) variant details
- p.Ile46Met
- gnomAD rs1407479349
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.33
- MetaLR 0.47
- MetaSVM -0.47
- CADD 15.30
- PolyPhen-2 0.67
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available