R49Q (p.Arg49Gln) variant of IFNAR2 (Interferon alpha/beta receptor 2)
R49Q (p.Arg49Gln) 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 0.26 / 1. The record also includes population frequency data and structural context.
R49Q (p.Arg49Gln) variant details
- p.Arg49Gln
- rs533026439
- ClinGen CA10005570
- cosmic curated COSV59749
- ClinVar RCV001921515
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.08
- CADD 14.30
- PolyPhen-2 0.04
- SIFT 0.33
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available