C39S (p.Cys39Ser) variant of IRF7 (Interferon regulatory factor 7)
C39S (p.Cys39Ser) in IRF7 (Interferon regulatory factor 7) is a missense change. Clinical records from ClinVar 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 0.35 / 1. The record also includes population frequency data and structural context.
C39S (p.Cys39Ser) variant details
- p.Cys39Ser
- TOPMed rs1264475945
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- AlphaMissense 0.19
- MetaLR 0.73
- MetaSVM 0.03
- CADD 12.10
- PolyPhen-2 0.06
- SIFT 0.28
- ClinVar: Uncertain significance (Immunodeficiency 39)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available