C26W (p.Cys26Trp) variant of IRF7 (Interferon regulatory factor 7)
C26W (p.Cys26Trp) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
C26W (p.Cys26Trp) variant details
- p.Cys26Trp
- rs767751130
- ClinGen CA5784100
- ClinVar RCV003750952
- ClinVar RCV004262011
- Uncertain significance
- Immunodeficiency 39; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- AlphaMissense 0.21
- MetaLR 0.86
- MetaSVM 0.32
- CADD 19.00
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Uncertain significance (Immunodeficiency 39; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available