R11T (p.Arg11Thr) variant of IFNAR2 (Interferon alpha/beta receptor 2)
R11T (p.Arg11Thr) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R11T (p.Arg11Thr) variant details
- p.Arg11Thr
- 1000Genomes rs554510864
- ExAC rs554510864
- TOPMed rs554510864
- gnomAD rs554510864
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.13
- CADD 11.90
- PolyPhen-2 0.64
- SIFT 0.21
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available