S28F (p.Ser28Phe) variant of IFNGR2 (Interferon gamma receptor 2)
S28F (p.Ser28Phe) 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 0.53 / 1. The record also includes structural context.
S28F (p.Ser28Phe) variant details
- p.Ser28Phe
- rs2083743038
- ClinGen CA410115160
- ClinVar RCV001213832
- Ensembl rs2083743038
- Uncertain significance
- Immunodeficiency 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- AlphaMissense 0.17
- MetaLR 0.68
- MetaSVM 0.19
- PolyPhen-2 0.03
- SIFT 0.01
- EVE 0.38
- ClinVar: Uncertain significance (Immunodeficiency 28)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available