R104H (p.Arg104His) variant of IRF7 (Interferon regulatory factor 7)
R104H (p.Arg104His) in IRF7 (Interferon regulatory factor 7) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R104H (p.Arg104His) variant details
- p.Arg104His
- rs773728605
- ExAC rs773728605
- gnomAD rs773728605
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- AlphaMissense 0.21
- MetaLR 0.92
- MetaSVM 0.55
- CADD 22.70
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available