R103C (p.Arg103Cys) variant of IRF7 (Interferon regulatory factor 7)
R103C (p.Arg103Cys) 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 not specified; Immunodeficiency 39. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R103C (p.Arg103Cys) variant details
- p.Arg103Cys
- rs754142854
- ClinGen CA5784004
- ClinVar RCV000820939
- ClinVar RCV004029054
- Uncertain significance
- not specified; Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- AlphaMissense 0.25
- MetaLR 0.93
- MetaSVM 0.53
- CADD 21.60
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (not specified; Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available