F95L (p.Phe95Leu) variant of IRF7 (Interferon regulatory factor 7)
F95L (p.Phe95Leu) 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 0.82 / 1. The record also includes population frequency data and structural context.
F95L (p.Phe95Leu) variant details
- p.Phe95Leu
- rs781195360
- ClinGen CA378983225
- ClinVar RCV004094511
- ExAC rs781195360
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 0.79
- CADD 29.80
- 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 3.1e-05)
- Structural context available