M18T (p.Met18Thr) variant of IFNAR2 (Interferon alpha/beta receptor 2)
M18T (p.Met18Thr) 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 0.29 / 1. The record also includes population frequency data and structural context.
M18T (p.Met18Thr) variant details
- p.Met18Thr
- rs1476050885
- ClinGen CA410093900
- ClinVar RCV002829852
- TOPMed rs1476050885
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.06
- CADD 14.60
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available