R104C (p.Arg104Cys) variant of IRF7 (Interferon regulatory factor 7)
R104C (p.Arg104Cys) 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 0.56 / 1. The record also includes population frequency data and structural context.
R104C (p.Arg104Cys) variant details
- p.Arg104Cys
- rs11544074
- ClinGen CA216912910
- ClinVar RCV003751592
- TOPMed rs11544074
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- AlphaMissense 0.21
- MetaLR 0.93
- MetaSVM 0.62
- 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 African/African-American population (allele frequency 4.8e-05)
- Structural context available