I127L (p.Ile127Leu) variant of IFNGR1 (Interferon gamma receptor 1)
I127L (p.Ile127Leu) 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 0.37 / 1. The record also includes structural context.
I127L (p.Ile127Leu) variant details
- p.Ile127Leu
- rs911137606
- ClinGen CA148229903
- ClinVar RCV002608641
- TOPMed rs911137606
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- AlphaMissense 0.19
- MetaLR 0.09
- MetaSVM -0.85
- PolyPhen-2 0.68
- SIFT 0.03
- EVE 0.49
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available