Q51R (p.Gln51Arg) variant of IFNGR1 (Interferon gamma receptor 1)
Q51R (p.Gln51Arg) 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 0.18 / 1. The record also includes population frequency data and structural context.
Q51R (p.Gln51Arg) variant details
- p.Gln51Arg
- rs375024435
- ClinGen CA4019040
- ClinVar RCV001875353
- ESP rs375024435
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.22
- CADD 6.18
- PolyPhen-2 0.61
- SIFT 0.79
- 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