I37V (p.Ile37Val) variant of IFNGR1 (Interferon gamma receptor 1)
I37V (p.Ile37Val) 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 0.07 / 1. The record also includes population frequency data and structural context.
I37V (p.Ile37Val) variant details
- p.Ile37Val
- TOPMed rs1242424639
- gnomAD rs1242424639
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.0658
- REVEL 0.07
- CADD 0.12
- PolyPhen-2 0.13
- SIFT 0.12
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- UniProt: Uncertain significance (in IMD27A)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available