M11I (p.Met11Ile) variant of IFNGR1 (Interferon gamma receptor 1)
M11I (p.Met11Ile) 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 0.16 / 1. The record also includes population frequency data and structural context.
M11I (p.Met11Ile) variant details
- p.Met11Ile
- rs1436185223
- ClinGen CA365776490
- ClinVar RCV002047100
- gnomAD rs1436185223
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.12
- CADD 8.38
- PolyPhen-2 0.02
- SIFT 0.53
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available