N44D (p.Asn44Asp) variant of IFNAR1 (Interferon alpha/beta receptor 1)
N44D (p.Asn44Asp) 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 0.17 / 1. The record also includes population frequency data and structural context.
N44D (p.Asn44Asp) variant details
- p.Asn44Asp
- 1000Genomes rs538755984
- ExAC rs538755984
- TOPMed rs538755984
- gnomAD rs538755984
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.07
- MetaLR 0.24
- MetaSVM -0.88
- CADD 13.40
- PolyPhen-2 0.05
- SIFT 0.44
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available