I43L (p.Ile43Leu) variant of IFNAR2 (Interferon alpha/beta receptor 2)
I43L (p.Ile43Leu) 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 specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
I43L (p.Ile43Leu) variant details
- p.Ile43Leu
- rs754395606
- ClinGen CA10005565
- ClinVar RCV001957757
- ClinVar RCV004043021
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.15
- CADD 0.45
- PolyPhen-2 0.01
- SIFT 0.47
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available