Q5R (p.Gln5Arg) variant of IFNAR2 (Interferon alpha/beta receptor 2)
Q5R (p.Gln5Arg) 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 provided. 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.
Q5R (p.Gln5Arg) variant details
- p.Gln5Arg
- rs762005656
- ClinGen CA10005494
- ClinVar RCV002766391
- ExAC rs762005656
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0399
- REVEL 0.02
- CADD 1.32
- PolyPhen-2 0.01
- SIFT 0.36
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available