C26S (p.Cys26Ser) variant of IRF7 (Interferon regulatory factor 7)
C26S (p.Cys26Ser) 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 0.31 / 1. The record also includes population frequency data and structural context.
C26S (p.Cys26Ser) variant details
- p.Cys26Ser
- Ensembl rs1856769625
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- AlphaMissense 0.15
- MetaLR 0.61
- MetaSVM -0.30
- CADD 7.63
- PolyPhen-2 0.04
- SIFT 0.12
- ClinVar: Uncertain significance (Immunodeficiency 39)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available