V106A (p.Val106Ala) variant of IRF7 (Interferon regulatory factor 7)
V106A (p.Val106Ala) in IRF7 (Interferon regulatory factor 7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
V106A (p.Val106Ala) variant details
- p.Val106Ala
- 1000Genomes rs376350717
- ESP rs376350717
- ExAC rs376350717
- TOPMed rs376350717
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- AlphaMissense 0.32
- MetaLR 0.84
- MetaSVM 0.33
- CADD 9.45
- PolyPhen-2 0.84
- SIFT 0.34
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available