A20T (p.Ala20Thr) variant of IFNGR2 (Interferon gamma receptor 2)
A20T (p.Ala20Thr) 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 0.31 / 1. The record also includes population frequency data and structural context.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- rs1176465152
- ClinGen CA410113962
- ClinVar RCV000706046
- TOPMed rs1176465152
- Uncertain significance
- Immunodeficiency 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.06
- MetaLR 0.08
- MetaSVM -1.04
- CADD 18.30
- PolyPhen-2 0.20
- SIFT 0.50
- ClinVar: Uncertain significance (Immunodeficiency 28)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.0001)
- Structural context available