W70C (p.Trp70Cys) variant of IRF7 (Interferon regulatory factor 7)
W70C (p.Trp70Cys) 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 0.83 / 1. The record also includes population frequency data and structural context.
W70C (p.Trp70Cys) variant details
- p.Trp70Cys
- rs1344827949
- ClinGen CA378983472
- ClinVar RCV001372776
- gnomAD rs1344827949
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- AlphaMissense 0.96
- MetaLR 0.93
- MetaSVM 1.01
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available