P81H (p.Pro81His) variant of IRF7 (Interferon regulatory factor 7)
P81H (p.Pro81His) 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 0.48 / 1. The record also includes population frequency data and structural context.
P81H (p.Pro81His) variant details
- p.Pro81His
- ExAC rs752325699
- TOPMed rs752325699
- gnomAD rs752325699
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- AlphaMissense 0.09
- MetaLR 0.74
- MetaSVM 0.09
- CADD 15.70
- PolyPhen-2 0.36
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 4.1e-05)
- Structural context available