R49W (p.Arg49Trp) variant of IFNAR2 (Interferon alpha/beta receptor 2)
R49W (p.Arg49Trp) 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 0.55 / 1. The record also includes population frequency data and structural context.
R49W (p.Arg49Trp) variant details
- p.Arg49Trp
- rs375487848
- cosmic curated COSV10057
- ESP rs375487848
- ExAC rs375487848
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.46
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available