L4F (p.Leu4Phe) variant of IFNGR1 (Interferon gamma receptor 1)
L4F (p.Leu4Phe) 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 0.27 / 1. The record also includes population frequency data and structural context.
L4F (p.Leu4Phe) variant details
- p.Leu4Phe
- rs1327532084
- ClinGen CA365776533
- ClinVar RCV003863842
- gnomAD rs1327532084
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.27
- CADD 14.80
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available