S73R (p.Ser73Arg) variant of IRF7 (Interferon regulatory factor 7)
S73R (p.Ser73Arg) 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 Immunodeficiency 39. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S73R (p.Ser73Arg) variant details
- p.Ser73Arg
- rs926854541
- ClinGen CA216913168
- ClinVar RCV001989560
- Ensembl rs926854541
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- AlphaMissense 0.30
- MetaLR 0.76
- MetaSVM 0.09
- CADD 16.00
- PolyPhen-2 0.08
- SIFT 0.15
- ClinVar: Uncertain significance (Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.8e-05)
- Structural context available