S50F (p.Ser50Phe) variant of IFNAR2 (Interferon alpha/beta receptor 2)
S50F (p.Ser50Phe) 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 0.20 / 1. The record also includes population frequency data and structural context.
S50F (p.Ser50Phe) variant details
- p.Ser50Phe
- rs1217206327
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10057
- TOPMed rs1217206327
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.20
- CADD 16.70
- PolyPhen-2 0.84
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available