R46Q (p.Arg46Gln) variant of IFNAR2 (Interferon alpha/beta receptor 2)
R46Q (p.Arg46Gln) in IFNAR2 (Interferon alpha/beta receptor 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R46Q (p.Arg46Gln) variant details
- p.Arg46Gln
- rs778792208
- NCI-TCGA Cosmic COSV5974
- cosmic curated COSV59746
- ExAC rs778792208
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.31
- CADD 14.80
- PolyPhen-2 0.66
- SIFT 0.28
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available