H59Y (p.His59Tyr) variant of IFNAR2 (Interferon alpha/beta receptor 2)
H59Y (p.His59Tyr) 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 0.21 / 1. The record also includes population frequency data and structural context.
H59Y (p.His59Tyr) variant details
- p.His59Tyr
- rs768519080
- ClinGen CA10005573
- cosmic curated COSV59749
- ClinVar RCV001302296
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.24
- CADD 12.70
- PolyPhen-2 0.78
- SIFT 0.21
- 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