F40C (p.Phe40Cys) variant of IRF7 (Interferon regulatory factor 7)
F40C (p.Phe40Cys) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
F40C (p.Phe40Cys) variant details
- p.Phe40Cys
- ExAC rs771740350
- TOPMed rs771740350
- gnomAD rs771740350
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.06
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available