V56G (p.Val56Gly) variant of IFNGR1 (Interferon gamma receptor 1)
V56G (p.Val56Gly) 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 0.13 / 1. The record also includes population frequency data and structural context.
V56G (p.Val56Gly) variant details
- p.Val56Gly
- rs763644961
- ClinGen CA4019034
- ClinVar RCV002241303
- ExAC rs763644961
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.18
- CADD 2.87
- PolyPhen-2 0.09
- SIFT 0.03
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available