M11L (p.Met11Leu) variant of IFNGR1 (Interferon gamma receptor 1)
M11L (p.Met11Leu) 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 0.09 / 1. The record also includes population frequency data and structural context.
M11L (p.Met11Leu) variant details
- p.Met11Leu
- ExAC rs781270900
- TOPMed rs781270900
- gnomAD rs781270900
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.0886
- REVEL 0.11
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- UniProt: Uncertain significance
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available