R49H (p.Arg49His) variant of IRF7 (Interferon regulatory factor 7)
R49H (p.Arg49His) in IRF7 (Interferon regulatory factor 7) is a missense change. 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.
R49H (p.Arg49His) variant details
- p.Arg49His
- ExAC rs749759655
- TOPMed rs749759655
- gnomAD rs749759655
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- AlphaMissense 0.70
- MetaLR 0.96
- MetaSVM 1.09
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available