Y27F (p.Tyr27Phe) variant of IRF7 (Interferon regulatory factor 7)
Y27F (p.Tyr27Phe) in IRF7 (Interferon regulatory factor 7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 39. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
Y27F (p.Tyr27Phe) variant details
- p.Tyr27Phe
- rs1856769021
- ClinGen CA378984705
- ClinVar RCV002040354
- TOPMed rs1856769021
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- AlphaMissense 0.19
- MetaLR 0.91
- MetaSVM 0.87
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available