V46I (p.Val46Ile) variant of IFNGR1 (Interferon gamma receptor 1)
V46I (p.Val46Ile) in IFNGR1 (Interferon gamma receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Disseminated atypical mycobacterial infection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
V46I (p.Val46Ile) variant details
- p.Val46Ile
- rs538147969
- ClinGen CA4019042
- ClinVar RCV002235604
- 1000Genomes rs538147969
- Likely benign
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.0877
- REVEL 0.11
- CADD 1.08
- PolyPhen-2 0.02
- SIFT 0.09
- ClinVar: Likely benign (Disseminated atypical mycobacterial infection)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GIH population (allele frequency 0.015)
- Structural context available