R123Q (p.Arg123Gln) variant of IFNGR1 (Interferon gamma receptor 1)
R123Q (p.Arg123Gln) in IFNGR1 (Interferon gamma receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 27A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
R123Q (p.Arg123Gln) variant details
- p.Arg123Gln
- rs146914620
- ClinGen CA4018991
- cosmic curated COSV62990
- ClinVar RCV000377483
- Uncertain significance
- Immunodeficiency 27A
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.13
- CADD 0.90
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Uncertain significance (Immunodeficiency 27A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available