D43N (p.Asp43Asn) variant of IFNAR1 (Interferon alpha/beta receptor 1)
D43N (p.Asp43Asn) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
D43N (p.Asp43Asn) variant details
- p.Asp43Asn
- TOPMed rs2083226033
- gnomAD rs2083226033
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.34
- MetaLR 0.38
- MetaSVM -0.36
- CADD 23.80
- PolyPhen-2 0.98
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available