F95C (p.Phe95Cys) variant of IRF7 (Interferon regulatory factor 7)
F95C (p.Phe95Cys) 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 0.78 / 1. The record also includes population frequency data and structural context.
F95C (p.Phe95Cys) variant details
- p.Phe95Cys
- TOPMed rs1185952202
- gnomAD rs1185952202
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available