W99R (p.Trp99Arg) variant of IFNGR1 (Interferon gamma receptor 1)
W99R (p.Trp99Arg) in IFNGR1 (Interferon gamma receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Immunodeficiency 27A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes structural context.
W99R (p.Trp99Arg) variant details
- p.Trp99Arg
- rs1582637044
- ClinGen CA365775758
- ClinVar RCV001030047
- Ensembl rs1582637044
- Likely pathogenic
- Immunodeficiency 27A
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- AlphaMissense 0.97
- MetaLR 0.48
- MetaSVM -0.20
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Likely pathogenic (Immunodeficiency 27A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available