N47T (p.Asn47Thr) variant of IFNAR2 (Interferon alpha/beta receptor 2)
N47T (p.Asn47Thr) in IFNAR2 (Interferon alpha/beta receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
N47T (p.Asn47Thr) variant details
- p.Asn47Thr
- gnomAD 21-33244993-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.40
- CADD 22.70
- PolyPhen-2 0.49
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available