I43T (p.Ile43Thr) variant of IFNAR2 (Interferon alpha/beta receptor 2)
I43T (p.Ile43Thr) in IFNAR2 (Interferon alpha/beta receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
I43T (p.Ile43Thr) variant details
- p.Ile43Thr
- rs2516705053
- ClinGen CA410095510
- ClinVar RCV002872458
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.44
- CADD 22.50
- PolyPhen-2 0.65
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available