N34D (p.Asn34Asp) variant of IFNGR1 (Interferon gamma receptor 1)
N34D (p.Asn34Asp) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
N34D (p.Asn34Asp) variant details
- p.Asn34Asp
- rs555180897
- ClinGen CA4019047
- ClinVar RCV002231721
- ClinVar RCV002527765
- Uncertain significance
- Disseminated atypical mycobacterial infection; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.32
- CADD 21.50
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection; Inborn genetic di)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)