D75G (p.Asp75Gly) variant of IFNGR1 (Interferon gamma receptor 1)
D75G (p.Asp75Gly) in IFNGR1 (Interferon gamma receptor 1) is a missense change. Clinical records from ClinVar 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.
D75G (p.Asp75Gly) variant details
- p.Asp75Gly
- ExAC rs770076728
- gnomAD rs770076728
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.37
- CADD 19.60
- PolyPhen-2 0.45
- SIFT 0.03
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available