I43R (p.Ile43Arg) variant of IFNAR2 (Interferon alpha/beta receptor 2)
I43R (p.Ile43Arg) in IFNAR2 (Interferon alpha/beta receptor 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
I43R (p.Ile43Arg) variant details
- p.Ile43Arg
- rs1422057210
- gnomAD 21-33244977-A-AAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.323
- CADD 19.20
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available