S53R (p.Ser53Arg) variant of IRF7 (Interferon regulatory factor 7)
S53R (p.Ser53Arg) 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; Immunodeficiency 39. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S53R (p.Ser53Arg) variant details
- p.Ser53Arg
- rs561433488
- ClinGen CA5784084
- ClinVar RCV003750581
- ClinVar RCV006428108
- Uncertain significance
- not specified; Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- AlphaMissense 0.61
- MetaLR 0.74
- MetaSVM 0.27
- CADD 2.50
- PolyPhen-2 0.92
- SIFT 0.41
- ClinVar: Uncertain significance (not specified; Immunodeficiency 39)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available