N44Y (p.Asn44Tyr) variant of IFNAR1 (Interferon alpha/beta receptor 1)
N44Y (p.Asn44Tyr) 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 0.28 / 1. The record also includes population frequency data and structural context.
N44Y (p.Asn44Tyr) variant details
- p.Asn44Tyr
- 1000Genomes rs538755984
- ExAC rs538755984
- TOPMed rs538755984
- gnomAD rs538755984
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.21
- MetaLR 0.47
- MetaSVM -0.49
- CADD 22.60
- SIFT 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available