V14M (p.Val14Met) variant of IFNGR1 (Interferon gamma receptor 1)
V14M (p.Val14Met) in IFNGR1 (Interferon gamma receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Disseminated atypical mycobacterial infection; Immunodeficiency 27A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
V14M (p.Val14Met) variant details
- p.Val14Met
- rs11575936
- ClinGen CA4019105
- ClinVar RCV000897561
- ClinVar RCV002235608
- Conflicting interpretations
- Disseminated atypical mycobacterial infection; Immunodeficiency 27A
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.32
- CADD 16.10
- PolyPhen-2 0.61
- SIFT 0.22
- ClinVar: Conflicting classifications of pathogenicity (Disseminated atypical mycobacterial infection; Immunodeficiency)
- EBI: Benign (may influence susceptibility to autoimmune and inflammatory dise)
- UniProt: Benign (may influence susceptibility to autoimmune and inflammatory dise)
- Most common in the HGDP:DAUR population (allele frequency 0.056)
- Structural context available
- Cited in: Association of the interferon-gamma receptor variant (Val14Met) with systemic lupus erythematosus. (PMID 10079289)
- Cited in: Association of IFN-gamma and IFN regulatory factor 1 polymorphisms with childhood atopic asthma. (PMID 11240951)