N43Y (p.Asn43Tyr) variant of IFNGR1 (Interferon gamma receptor 1)
N43Y (p.Asn43Tyr) 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 0.30 / 1. The record also includes population frequency data and structural context.
N43Y (p.Asn43Tyr) variant details
- p.Asn43Tyr
- rs1404651605
- ClinGen CA365776141
- ClinVar RCV002242051
- TOPMed rs1404651605
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.34
- CADD 22.60
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available