R75T (p.Arg75Thr) variant of IRF7 (Interferon regulatory factor 7)
R75T (p.Arg75Thr) 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 0.34 / 1. The record also includes population frequency data and structural context.
R75T (p.Arg75Thr) variant details
- p.Arg75Thr
- rs779855922
- ClinGen CA5784036
- ClinVar RCV003073761
- ExAC rs779855922
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- AlphaMissense 0.09
- MetaLR 0.69
- MetaSVM 0.01
- CADD 9.53
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Uncertain significance (Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available