R88C (p.Arg88Cys) variant of IRF7 (Interferon regulatory factor 7)
R88C (p.Arg88Cys) in IRF7 (Interferon regulatory factor 7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R88C (p.Arg88Cys) variant details
- p.Arg88Cys
- rs772072942
- ClinGen CA5784019
- cosmic curated COSV10458
- ClinVar RCV004351086
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- AlphaMissense 0.75
- MetaLR 0.93
- MetaSVM 1.08
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available