D53Y (p.Asp53Tyr) variant of IFNAR1 (Interferon alpha/beta receptor 1)
D53Y (p.Asp53Tyr) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
D53Y (p.Asp53Tyr) variant details
- p.Asp53Tyr
- 1000Genomes rs377298705
- ExAC rs377298705
- TOPMed rs377298705
- gnomAD rs377298705
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.22
- MetaLR 0.21
- MetaSVM -0.71
- CADD 0.40
- PolyPhen-2 0.26
- SIFT 0.97
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available