T31I (p.Thr31Ile) variant of IFNGR1 (Interferon gamma receptor 1)
T31I (p.Thr31Ile) 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 Disseminated atypical mycobacterial infection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
T31I (p.Thr31Ile) variant details
- p.Thr31Ile
- rs370074491
- ClinGen CA4019051
- ClinVar RCV002240309
- ESP rs370074491
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.17
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.0012)
- Structural context available