T21I (p.Thr21Ile) variant of IFNGR1 (Interferon gamma receptor 1)
T21I (p.Thr21Ile) in IFNGR1 (Interferon gamma receptor 1) is a missense change. Clinical records from ClinVar 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 0.18 / 1. The record also includes population frequency data and structural context.
T21I (p.Thr21Ile) variant details
- p.Thr21Ile
- Ensembl rs2114527582
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.08
- CADD 4.62
- PolyPhen-2 0.04
- SIFT 0.50
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available