D124Y (p.Asp124Tyr) variant of IFNGR1 (Interferon gamma receptor 1)
D124Y (p.Asp124Tyr) 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 Disseminated atypical mycobacterial infection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
D124Y (p.Asp124Tyr) variant details
- p.Asp124Tyr
- rs1779421721
- ClinGen CA365775587
- ClinVar RCV002241939
- TOPMed rs1779421721
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- AlphaMissense 0.19
- MetaLR 0.07
- MetaSVM -0.98
- PolyPhen-2 0.17
- SIFT 0.02
- EVE 0.18
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available