L13F (p.Leu13Phe) variant of IFNGR2 (Interferon gamma receptor 2)
L13F (p.Leu13Phe) in IFNGR2 (Interferon gamma receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Immunodeficiency 28; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L13F (p.Leu13Phe) variant details
- p.Leu13Phe
- rs1012938610
- ClinGen CA320132009
- ClinVar RCV000548780
- ClinVar RCV001200268
- Conflicting interpretations
- Inborn genetic diseases; Immunodeficiency 28; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.18
- MetaLR 0.49
- MetaSVM -0.59
- CADD 22.80
- PolyPhen-2 0.98
- SIFT 0.64
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Immunodeficiency 28; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)