C26Y (p.Cys26Tyr) variant of IRF7 (Interferon regulatory factor 7)
C26Y (p.Cys26Tyr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
C26Y (p.Cys26Tyr) variant details
- p.Cys26Tyr
- rs1856769625
- ClinGen CA378984722
- ClinVar RCV004099106
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- AlphaMissense 0.14
- MetaLR 0.70
- MetaSVM -0.05
- CADD 5.65
- PolyPhen-2 0.83
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available