R100C (p.Arg100Cys) variant of IRF7 (Interferon regulatory factor 7)
R100C (p.Arg100Cys) in IRF7 (Interferon regulatory factor 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R100C (p.Arg100Cys) variant details
- p.Arg100Cys
- cosmic curated COSV99199
- ExAC rs757871091
- TOPMed rs757871091
- gnomAD rs757871091
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- AlphaMissense 0.24
- MetaLR 0.93
- MetaSVM 0.51
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available