M1K (p.Met1Lys) variant of IFNGR1 (Interferon gamma receptor 1)
M1K (p.Met1Lys) in IFNGR1 (Interferon gamma receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Immunodeficiency 27A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs387906593
- ClinGen CA128494
- ClinVar RCV000022447
- Pathogenic
- Immunodeficiency 27A
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- MetaLR 0.60
- MetaSVM -0.32
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.78
- ClinVar: Pathogenic (Immunodeficiency 27A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1… (PMID 19880857)