W7R (p.Trp7Arg) variant of IFNGR2 (Interferon gamma receptor 2)
W7R (p.Trp7Arg) in IFNGR2 (Interferon gamma receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 28. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
W7R (p.Trp7Arg) variant details
- p.Trp7Arg
- rs1275268702
- ClinGen CA410113887
- ClinVar RCV003061946
- gnomAD rs1275268702
- Uncertain significance
- Immunodeficiency 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.05
- MetaLR 0.10
- MetaSVM -1.00
- CADD 16.10
- PolyPhen-2 0.16
- SIFT 0.31
- ClinVar: Uncertain significance (Immunodeficiency 28)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available