W99C (p.Trp99Cys) variant of IFNGR1 (Interferon gamma receptor 1)
W99C (p.Trp99Cys) in IFNGR1 (Interferon gamma receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 27A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes structural context.
W99C (p.Trp99Cys) variant details
- p.Trp99Cys
- rs1582637035
- ClinGen CA365775753
- ClinVar RCV000795214
- Ensembl rs1582637035
- Uncertain significance
- Immunodeficiency 27A
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- AlphaMissense 0.99
- MetaLR 0.51
- MetaSVM -0.16
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Uncertain significance (Immunodeficiency 27A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available